SCN5A Variant I1670L

Summary of observed carriers, functional annotations, and structural context for SCN5A I1670L. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

7%

0/10 effective observations

Estimated BrS1 penetrance

26%

2/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

I1670L has not been reported in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 2 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 (%)
NA NA NA 0.902 33 5

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 – 0 0 0 0 –
Variant features alone – 15 13 0 2 – –

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 I1670L.
Neighbour residue Distance (Å) Observed variants
1271 14 W1271C, W1271C,
1218 13 S1218T, S1218I,
1304 8 T1304M,
1757 15
1315 15
1274 13
1216 13 L1216V,
1698 14 A1698T,
1756 15 I1756V,
1314 12 c.3940_3941delCT,
1220 12 G1220E,
1673 6
1675 9
1666 6
1754 11
1707 13
1694 13
1704 10 L1704H,
1309 12 R1309H, R1309C,
1226 14
1669 5
1671 5
1221 14 A1221V,
1668 7 M1668T,
1676 10 M1676T, M1676I, M1676I, M1676I,
1219 10 S1219N,
1672 6 S1672Y,
1313 14
1660 15 I1660S, I1660V,
1310 9
1306 12 R1306H, R1306S,
1665 9
1305 9
1703 14
1663 10
1302 14 p.L1302Vfs18,
1759 12 S1759C,
1662 13
1327 15
1701 11 M1701I, M1701I, M1701I,
1307 6
1758 11 p.I1758del, I1758V,
1678 13 N1678S,
1223 11 c.3667delG,
1755 10
1697 13
1222 11 L1222R, p.L1222LfsX7,
1674 7 F1674V,
1215 13 I1215V,
1708 13 T1708I,
1301 12
1696 15
1705 14
1700 11
1312 15
1763 14 V1763L, V1763M, V1763L,
1751 10
1311 8 L1311P,
1677 12
1308 7 L1308F,
1750 15 L1750F,
1752 14
1224 15
1670 0
1661 13 G1661R, G1661R, G1661E,
1225 14 E1225K, G1225K,
1278 14 I1278N,
1679 13
1667 5 V1667I,
1664 11
1303 13 R1303Q, R1303W,