ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.278A>T (p.Asp93Val)

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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 RCV003630384 SCV004488608 uncertain significance Amyotrophic lateral sclerosis type 1 2022-11-29 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 missense change has been observed in individual(s) with clinical features of autosomal dominant amyotrophic lateral sclerosis (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 93 of the SOD1 protein (p.Asp93Val).

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