SCN5A Variant K91M

Summary of observed carriers, functional annotations, and structural context for SCN5A K91M. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

20%

0/10 effective observations

Estimated BrS1 penetrance

23%

2/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

K91M has not been reported in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Mild_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 2 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 0.905 27 23

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 13 0 2 – –

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 K91M.
Neighbour residue Distance (Å) Observed variants
76 15
77 14 G77R, G77R,
78 14
79 13 P79A, P79S, P79H,
80 13
81 12
82 11 D82E, D82E,
83 11 p.L83WfsX14,
84 10 D84N, D84G,
85 9 P85T, P85S,
86 8 F86L, F86L, F86L,
87 8 Y87C,
88 7 S88G,
89 5
90 4 p.Q90WfsX14,
91 0
92 4 c.274-24C>T, T92I,
93 5 F93S,
94 7 I94V, I94S,
95 8 V95I, V95L, V95L,
96 8
97 9
98 10
99 11
100 11
101 12 T101I,
102 13
103 13
104 14 R104G, R104W, R104Q,
105 14
106 15 S106T