ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn)

gnomAD frequency: 0.00004  dbSNP: rs774070119
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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 RCV001045645 SCV001209510 uncertain significance Amyotrophic lateral sclerosis type 21 2022-08-16 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 843102). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs774070119, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 772 of the MATR3 protein (p.Asp772Asn).

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