ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.287C>T (p.Ala96Val)

dbSNP: rs1568810690
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971902 SCV002199778 uncertain significance Amyotrophic lateral sclerosis type 1 2023-05-06 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with amyotrophic lateral sclerosis and/or clinical features of autosomal dominant SOD1-related conditions (PMID: 14506936; Invitae). 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. Experimental studies have shown that this missense change affects SOD1 function (PMID: 23280792). 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 expected to disrupt SOD1 protein function. ClinVar contains an entry for this variant (Variation ID: 1430718). This variant is also known as A95V. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 96 of the SOD1 protein (p.Ala96Val).

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