ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.1356T>G (p.Asp452Glu)

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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 RCV002295610 SCV002595175 uncertain significance Amyotrophic lateral sclerosis type 21 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 452 of the MATR3 protein (p.Asp452Glu). This variant is present in population databases (rs754837689, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. 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. 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.

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