SCN5A Variant L306V

Summary of observed carriers, functional annotations, and structural context for SCN5A L306V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

0%

0/14 effective observations

Estimated BrS1 penetrance

6%

0/14 effective observations

Total carriers

4

0 BrS1 · 0 LQT3 · 4 unaffected

L306V is present in 4 alleles in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 0 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 (%)
0.16 0 -0.34 0.299 3 0

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 – 4 4 0 0 –
Variant features alone – 15 15 0 0 – –

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 L306V.
Neighbour residue Distance (Å) Observed variants
291 15 N291S, N291H, p.N291_S293dup, N291K, p.N291TfsX52, N291K,
292 14 G292S,
293 14
294 13 V294M,
295 13 E295K,
296 12
297 11
298 11 G298S, G298D,
299 10 L299F, L299M, L299F,
300 9 V300I,
301 8
302 8
303 7
304 5
305 4 D305N
306 0 L306F, L306V,
307 4
308 5
309 7 S309C, S309N,
310 8 D310N,
311 8
312 9 E312K, c.934+1G>A, c.934+4C>T,
313 10
314 11
315 11 L315P,
316 12
317 13 K317N, K317E, K317N, K317M,
318 13
319 14 G319S, G319C, G319R,
320 14 T320N,
321 15 S321Y,