SCN5A Variant T370A

Summary of observed carriers, functional annotations, and structural context for SCN5A T370A. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

16%

0/10 effective observations

Estimated BrS1 penetrance

23%

2/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

T370A has not been reported in gnomAD. This residue resides in a Hotspot region for Brugada syndrome and a Mild_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 0.98 26 18

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 T370A.
Neighbour residue Distance (Å) Observed variants
403 13
364 10
919 13
901 14 E901K, S901L,
363 10
896 12 C896S, C896S,
404 10 L404V, L404Q,
895 12 L895F,
1417 15
396 10 V396L, V396A,
894 11 I894M,
254 14
372 6
401 7 S401P,
926 13
1764 14 c.5290delG, V1764F,
371 5 Q371E,
409 14 L409V, L409P,
1711 12 c.5131delG,
928 9 L928P,
925 14 I925F,
361 14
904 14 W904X,
260 14
366 5
365 9
1706 14 Q1706H, Q1706H,
376 15 R376C, R376H,
258 14 V258A,
897 7 G897R, G897R, G897E,
924 11 V924I,
927 9 N927S, N927K, N927K,
369 5 M369K,
378 15
1418 13
902 14
402 10 F402L, F402L, F402L,
373 9
1768 15 I1768V
898 10
893 13 R893C, R893H,
921 14
922 12 V922I,
399 14
397 9 I397V, I397F, I397T,
405 8
362 12
261 11
920 10
1709 11 p.T1709del, T1709R, T1709M,
900 10
392 15
393 13
916 14
264 14
929 14
1708 15 T1708I,
265 15 A265V,
408 12
374 9 W374G,
407 14
903 12 p.M903CfsX29,
367 7 R367C, R367H, R367L,
1760 14
370 0 T370M,
923 8
375 13
406 12 N406S, N406K, N406K,
368 7
899 7
1710 12 S1710L,
377 12
932 13
398 14
257 12
400 10 G400R, G400R, G400E, G400A,
1419 13 K1419E,
931 13