ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.5212T>G (p.Phe1738Val)

dbSNP: rs763972874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647779 SCV000769582 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2022-10-19 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) performed at Invitae indicates that this missense variant is not expected to disrupt SCN9A protein function. ClinVar contains an entry for this variant (Variation ID: 538462). This variant has not been reported in the literature in individuals affected with SCN9A-related conditions. This variant is present in population databases (rs763972874, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1727 of the SCN9A protein (p.Phe1727Val).
Ambry Genetics RCV002334171 SCV002643708 uncertain significance Inborn genetic diseases 2019-11-21 criteria provided, single submitter clinical testing The p.F1727V variant (also known as c.5179T>G), located in coding exon 26 of the SCN9A gene, results from a T to G substitution at nucleotide position 5179. The phenylalanine at codon 1727 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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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