SCN5A Variant Q379R

Summary of observed carriers, functional annotations, and structural context for SCN5A Q379R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

16%

0/10 effective observations

Estimated BrS1 penetrance

36%

3/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

Q379R 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 3 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 0.92 50 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 12 0 3 – –

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 Q379R.
Neighbour residue Distance (Å) Observed variants
333 11 c.998+1G>A, c.998+5G>A,
364 15
1702 9
326 12
276 12 L276Q, L276P,
387 12
348 12 P348A,
385 12 A385T,
355 15 F355I, F355C,
1715 11
1687 7
278 15 H278D, H278R,
372 14
388 14 I388S,
1698 13 A1698T,
334 13 c.999-424_1338+81del,
371 15 Q371E,
1711 10 c.5131delG,
332 11 A332T,
1707 12
1694 14
1704 13 L1704H,
327 13
1706 7 Q1706H, Q1706H,
1716 11 p.L1716SfsX71
376 6 R376C, R376H,
1714 14 D1714G,
384 10 S384T,
1688 10
1684 13 W1684R, W1684R,
354 15
329 15
1692 6
386 10 G386R, G386R, G386E,
1693 11
378 5
1699 11
331 14
349 12 D349N,
373 11
1712 10 G1712S, G1712C,
379 0
1703 9
272 14
397 15 I397V, I397F, I397T,
1719 14
1709 13 p.T1709del, T1709R, T1709M,
1701 14 M1701I, M1701I, M1701I,
325 9 L325R,
1690 12 c.5068_5070delGA, D1690N,
392 14
324 10
389 13 Y389H, Y389X,
393 11
1713 14
390 12
275 15 N275K, N275K,
383 7
1708 15 T1708I,
323 14
382 7
374 9 W374G,
1705 11
1689 7 D1689N,
1700 13
367 13 R367C, R367H, R367L,
381 7 c.1140+1G>A, c.1141-3C>A,
1686 11
375 6
1691 8
368 13
1710 14 S1710L,
380 6
377 7
1685 14
1419 14 K1419E,
353 13 T353I,