ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.832A>G (p.Ile278Val)

dbSNP: rs765718462
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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 RCV001911258 SCV002167371 uncertain significance Amyotrophic lateral sclerosis type 21 2020-11-06 criteria provided, single submitter clinical testing This variant is present in population databases (rs765718462, ExAC 0.02%). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MATR3-related conditions. This sequence change replaces isoleucine with valine at codon 278 of the MATR3 protein (p.Ile278Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine.

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