ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2507A>C (p.Lys836Thr)

gnomAD frequency: 0.00001  dbSNP: rs912142064
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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 RCV001928748 SCV002204967 uncertain significance Amyotrophic lateral sclerosis type 21 2021-11-30 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 836 of the MATR3 protein (p.Lys836Thr). This variant is present in population databases (no rsID available, gnomAD no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MATR3-related conditions.

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