SCN5A Variant R367P

Summary of observed carriers, functional annotations, and structural context for SCN5A R367P. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

14%

0/10 effective observations

Estimated BrS1 penetrance

48%

4/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

R367P 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 4 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 0.971 71 15

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 11 0 4 – –

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 R367P.
Neighbour residue Distance (Å) Observed variants
364 5
919 13
901 11 E901K, S901L,
276 13 L276Q, L276P,
363 6
896 15 C896S, C896S,
404 15 L404V, L404Q,
348 13 P348A,
360 11
396 11 V396L, V396A,
894 12 I894M,
355 11 F355I, F355C,
372 4
401 12 S401P,
371 8 Q371E,
1711 12 c.5131delG,
928 15 L928P,
361 10
904 9 W904X,
366 7
365 7
1706 13 Q1706H, Q1706H,
376 9 R376C, R376H,
354 11
897 10 G897R, G897R, G897E,
927 15 N927S, N927K, N927K,
369 9 M369K,
378 12
902 12
402 15 F402L, F402L, F402L,
349 11 D349N,
373 6
1712 14 G1712S, G1712C
379 13
898 10
893 13 R893C, R893H,
922 15 V922I,
272 14
397 11 I397V, I397F, I397T,
405 14
362 10
261 12
920 11
1709 13 p.T1709del, T1709R, T1709M,
900 6
392 13
393 11
916 12
264 13
347 14
351 13 G351S, G351C, G351D, G351V,
265 12 A265V,
374 8 W374G,
350 12 H350Q, H350Q,
358 15
903 9 p.M903CfsX29,
367 0 R367C, R367H, R367L,
359 13 A359T, p.A359PfsX12,
370 7 T370M,
381 12 c.1140+1G>A, c.1141-3C>A,
923 11
905 14
375 10
352 12 Y352C,
368 5
899 6
1710 14 S1710L,
380 12
915 15 C915R,
268 13 G268S,
377 6
400 13 G400R, G400R, G400E, G400A,
1419 14 K1419E,
353 9 T353I,
907 13