SCN5A Variant D322G

Summary of observed carriers, functional annotations, and structural context for SCN5A D322G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

38%

3/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

D322G has not been reported in gnomAD. This residue resides in a 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 0.884 54 1

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 D322G.
Neighbour residue Distance (Å) Observed variants
277 12
326 13
276 13 L276P, L276Q,
348 8 P348A,
317 14 K317N, K317N, K317M, K317E,
279 8
278 14 H278D, H278R,
318 15
339 14
376 13 R376C, R376H
871 13
354 15
282 14 R282H, R282C,
349 9 D349N,
319 11 G319R, G319C, G319S,
325 10 L325R,
324 8
321 4 S321Y,
872 10 D872N,
345 10
383 14
280 10 C280Y,
323 5
347 9
351 11 G351S, G351C, G351V, G351D,
320 9 T320N,
350 11 H350Q, H350Q,
342 14
346 9 E346D, E346G, E346X, E346D, E346K,
344 11 A344S,
322 0
352 14 Y352C,
380 12
908 15
873 13 S873A,
281 12 V281M,
353 13 T353I,