ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)

dbSNP: rs121912456
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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 RCV000015903 SCV002258110 likely pathogenic Amyotrophic lateral sclerosis type 1 2020-12-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 28035186, 11369193, 14506936). ClinVar contains an entry for this variant (Variation ID: 14780). This variant is also known as p.Gly12Arg. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 13 of the SOD1 protein (p.Gly13Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.
OMIM RCV000015903 SCV000036170 pathogenic Amyotrophic lateral sclerosis type 1 2001-05-01 no assertion criteria provided literature only

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