SCN5A Variant S384A

Summary of observed carriers, functional annotations, and structural context for SCN5A S384A. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

6%

0/10 effective observations

Estimated BrS1 penetrance

18%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

S384A 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 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 (%)
NA NA NA 0.49 21 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 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 S384A.
Neighbour residue Distance (Å) Observed variants
328 7
333 8 c.998+1G>A, c.998+5G>A,
277 10
271 11 L271V,
1702 14
326 6
276 6 L276Q, L276P,
387 11
348 11 P348A,
279 10
385 4 A385T,
355 12 F355I, F355C,
330 11 S330F,
278 5 H278D, H278R,
388 11 I388S,
356 15 D356N,
334 9 c.999-424_1338+81del,
332 6 A332T,
343 11
327 5
376 13 R376C, R376H,
384 0 S384T,
354 12
329 8
1692 12
386 6 G386R, G386R, G386E,
340 14 R340W, R340Q,
378 11
1699 15
331 11
349 15 D349N,
379 10
1550 15
272 9
341 8 C341Y,
274 9 G274C,
273 13
335 11 C335S, C335R, C335S,
325 5 L325R,
1690 15 c.5068_5070delGA, D1690N
392 13
324 10
389 9 Y389H, Y389X,
1620 15 T1620K, T1620M,
345 14
393 13
390 14
275 6 N275K, N275K,
383 6
280 10 C280Y,
323 12
347 12
382 7
1689 13 D1689N,
342 11
336 14 P336L,
344 12 A344S,
381 6 c.1140+1G>A, c.1141-3C>A,
1691 10
380 8
268 13 G268S,
377 11
281 14 V281M,
353 13 T353I,