ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg)

gnomAD frequency: 0.00001  dbSNP: rs765284792
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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 RCV001035351 SCV001198676 uncertain significance Amyotrophic lateral sclerosis type 21 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 786 of the MATR3 protein (p.Pro786Arg). This variant is present in population databases (rs765284792, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. ClinVar contains an entry for this variant (Variation ID: 834625). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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