ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2496A>G (p.Lys832=)

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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 RCV003082970 SCV003483275 uncertain significance Amyotrophic lateral sclerosis type 21 2022-10-23 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 832 of the MATR3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MATR3 protein.

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