ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2189C>G (p.Ala730Gly)

dbSNP: rs762668138
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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 RCV002008956 SCV002277415 uncertain significance Amyotrophic lateral sclerosis type 21 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, a(n) neutral and non-polar amino acid, with glycine, a(n) neutral and non-polar amino acid, at codon 730 of the MATR3 protein (p.Ala730Gly). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is not present in population databases (gnomAD no frequency).

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