SCN5A Variant I1771T

Summary of observed carriers, functional annotations, and structural context for SCN5A I1771T. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

16%

0/11 effective observations

Estimated BrS1 penetrance

11%

1/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

I1771T is present in 1 alleles in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Mild_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density BrS (%) Penetrance Density LQT3 (%)
-4.62 1 -3.66 0.965 6 28

PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).

Reported carrier data

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT3 BrS1 Other Other Disease
Literature, cohort, and gnomAD – 1 1 0 0 –
Variant features alone – 15 14 0 1 – –

Totals may differ from individual publications due to duplicate patients removed during curation.

Nearby variants

Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.

Previously observed variants near I1771T.
Neighbour residue Distance (Å) Observed variants
403 7
414 13 M414V,
939 14 L939F,
1659 13
1643 14 I1643L,
404 10 L404V, L404Q,
1778 11
1773 7
1765 11
1653 6
1472 15 p.N1472del, N1472S,
1771 0 I1771T,
401 11 S401P,
1652 9 M1652T, M1652R,
1777 11 V1777M, V1777L, V1777L,
1764 11 c.5290delG, V1764F,
250 15
409 9 L409V, L409P,
928 15 L928P,
1650 7 L1650F,
1656 9
1477 12 K1477N, K1477N,
1471 14
935 13 L935P,
1779 12 T1779M
412 13 V412D,
1470 10
1466 11 c.4396_4397insG,
1776 9
369 14 M369K,
1767 6 Y1767C,
1660 11 I1660V, I1660S,
1654 10
1648 12
1769 6
402 9 F402L, F402L, F402L,
1766 10 M1766L, M1766V, M1766L, M1766T,
1319 15 G1319V,
1649 8 A1649V,
1768 6 I1768V,
1774 6 N1774D, c.5321_5324dupACTT,
1473 10 F1473S, F1473C,
256 14
399 12
397 15 I397V, I397F, I397T,
405 9
1657 7
1474 13
1772 5 L1772V,
1645 13 T1645M,
1323 13 V1323G,
410 8 A410V,
1770 5 I1770V,
1651 11
413 12 A413T, A413E,
408 10
253 13
1322 14 c.3963+2T>C, c.3963+4A>G,
407 7
936 15
1763 13 V1763M, V1763L, V1763L,
1467 14
1775 7 F1775V, p.F1775LfsX15,
1661 14 G1661R, G1661R, G1661E,
1655 11
1469 12 I1469V,
406 6 N406S, N406K, N406K,
411 11 V411M,
932 13
398 12
1647 11
400 11 G400R, G400R, G400E, G400A,
1646 10
1658 12