ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr)

gnomAD frequency: 0.00002  dbSNP: rs1314919388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508173 SCV001714146 uncertain significance not provided 2020-07-23 criteria provided, single submitter clinical testing
Invitae RCV001859349 SCV002116439 uncertain significance Amyotrophic lateral sclerosis type 21 2022-06-27 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: 1163259). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 710 of the MATR3 protein (p.Ala710Thr).

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