ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.13G>T (p.Ala5Ser)

dbSNP: rs121912444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095541 SCV001251044 pathogenic Amyotrophic lateral sclerosis type 1 2020-03-31 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001095541 SCV002232045 pathogenic Amyotrophic lateral sclerosis type 1 2021-07-22 criteria provided, single submitter clinical testing This variant has been observed in individuals with clinical features of SOD1-related conditions (PMID: 32579787; Invitae). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ala5 amino acid residue in SOD1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7951249, 8179602, 8351519, 12792143, 17543992, 19176896, 19618436, 22292843). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this variant affects SOD1 protein function (PMID: 21257910, 23280792, 26362407). 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: 873321). This variant is also known as Ala4Ser. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 5 of the SOD1 protein (p.Ala5Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine.

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