ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2149-5T>C

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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 RCV003515544 SCV004262377 uncertain significance Amyotrophic lateral sclerosis type 21 2024-01-02 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the MATR3 gene. It does not directly change the encoded amino acid sequence of the MATR3 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.

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