ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.793C>A (p.Leu265Ile)

dbSNP: rs1554146560
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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 RCV000559243 SCV000653849 uncertain significance Amyotrophic lateral sclerosis type 21 2017-03-09 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 265 of the MATR3 protein (p.Leu265Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MATR3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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