ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.17T>C (p.Val6Ala)

dbSNP: rs2123427988
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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 RCV001910988 SCV002158315 uncertain significance Amyotrophic lateral sclerosis type 1 2021-08-28 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 expected to disrupt SOD1 protein function. This variant has not been reported in the literature in individuals affected with SOD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 6 of the SOD1 protein (p.Val6Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.

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