SCN5A Variant F362L

Summary of observed carriers, functional annotations, and structural context for SCN5A F362L. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

9%

0/10 effective observations

Estimated BrS1 penetrance

30%

3/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

F362L 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 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 0.895 40 8

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 F362L.
Neighbour residue Distance (Å) Observed variants
364 7
266 10 L266H,
919 15
363 5
404 14 L404V, L404Q,
270 14 Q270K,
360 8
396 12 V396L, V396A,
355 10 F355I, F355C,
254 12
372 14
401 14 S401P,
356 12 D356N,
1543 14 V1543L, V1543L, V1543A,
1542 14
361 5
904 14 W904X,
260 10
366 6
365 6
258 8 V258A,
354 12
924 15 V924I,
1546 10 M1546T,
369 10 M369K,
267 12
262 7 S262G,
357 10
256 14
921 15
272 14
397 15 I397V, I397F, I397T,
362 0
261 6
920 10
900 13
392 14
255 13
269 11
917 12 L917V, L917R,
916 10
264 10
912 14 Q912R,
259 12
265 6 A265V,
358 6
903 13 p.M903CfsX29,
367 10 R367C, R367H, R367L,
263 10 V263I,
359 6 A359T, p.A359PfsX12,
1547 15 V1547L, V1547L
370 12 T370M,
923 14
352 13 Y352C,
368 10
899 12
268 11 G268S,
377 14
257 10
400 14 G400R, G400R, G400E, G400A,
353 13 T353I,
907 14