ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.325A>G (p.Ser109Gly)

gnomAD frequency: 0.00001  dbSNP: rs1255035245
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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 RCV001981691 SCV002222619 uncertain significance Amyotrophic lateral sclerosis type 21 2021-04-29 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MATR3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 109 of the MATR3 protein (p.Ser109Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine.

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