ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.620G>A (p.Arg207His)

gnomAD frequency: 0.00002  dbSNP: rs749335257
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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 RCV001871381 SCV002149523 uncertain significance Amyotrophic lateral sclerosis type 21 2021-10-04 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. This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs749335257, ExAC 0.004%). This sequence change replaces arginine with histidine at codon 207 of the MATR3 protein (p.Arg207His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.

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