SCN5A Variant F170I

Summary of observed carriers, functional annotations, and structural context for SCN5A F170I. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

7%

0/11 effective observations

Estimated BrS1 penetrance

11%

1/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

F170I is present in 1 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 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 (%)
-5.78 0.993 2.47 0.948 7 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 – 1 1 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 F170I.
Neighbour residue Distance (Å) Observed variants
121 14 R121Q, R121W,
198 12
124 10 A124D,
164 12 F164L,
130 14
170 0 F170I,
138 15 M138I,
171 6
137 10 I137V,
197 13
129 14
163 11 c.486delC,
169 6
177 10 L177P,
123 12 A123V, A123G,
127 9
125 13 V125L,
174 6 V174I,
133 8
132 14 c.393-5C>A,
134 12 N134S,
205 14 c.612-2A>G, Y205X,
166 7 A166T,
179 15 R179Q, R179X,
172 7
139 15 p.I137_C139dup,
165 10
180 15 G180V,
120 13
126 14 K126E,
136 11 L136P,
168 9
175 9 K175N,
141 15 I141N, I141V,
188 15
167 6
178 12 A178G,
128 10 c.381dupT,
201 12
225 14 R225Q, R225W,
176 11
173 6
140 12