ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.3509C>T (p.Ala1170Val)

gnomAD frequency: 0.00004  dbSNP: rs202104486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877793 SCV002140881 uncertain significance Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 2023-08-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SCN11A protein function. ClinVar contains an entry for this variant (Variation ID: 1374373). This variant has not been reported in the literature in individuals affected with SCN11A-related conditions. This variant is present in population databases (rs202104486, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1170 of the SCN11A protein (p.Ala1170Val).
Ambry Genetics RCV002334782 SCV002618869 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The p.A1170V variant (also known as c.3509C>T), located in coding exon 21 of the SCN11A gene, results from a C to T substitution at nucleotide position 3509. The alanine at codon 1170 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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