SCN5A Variant K158M

Summary of observed carriers, functional annotations, and structural context for SCN5A K158M. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

16%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

K158M 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 1 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 0.951 14 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 – 0 0 0 0 –
Variant features alone – 15 14 0 1 – –

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 K158M.
Neighbour residue Distance (Å) Observed variants
208 9 E208K,
205 15 c.612-2A>G, Y205X,
154 12 P154L,
156 7 W156R, W156R, W156X,
158 0 K158T,
206 15
163 10 c.486delC,
166 14 A166T,
161 6 E161K, E161Q,
219 11 p.R219HfsX11, R219C, c.656_657insATTCA, R219H,
211 15
144 13
151 11
222 12 R222X, R222Q, R222L
218 14
159 7 Y159C, Y159X,
153 14
155 10
147 10
207 11
150 14
212 12 L212Q, L212P,
164 11 F164L, F164L, F164L,
209 14 N209S, N209T,
157 6 T157I,
148 13
160 7 p.V160fs,
165 11
210 11 I210T,
204 12 A204T, c.611+1G>A, c.611+3_611+4dupAA, A204V,
162 6 Y162H, Y162C,