ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2372-3dup

gnomAD frequency: 0.00001  dbSNP: rs1561945483
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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 RCV000703871 SCV000832795 uncertain significance Amyotrophic lateral sclerosis type 21 2018-05-23 criteria provided, single submitter clinical testing 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. This sequence change falls in intron 16 of the MATR3 gene. It does not directly change the encoded amino acid sequence of the MATR3 protein, but it affects a nucleotide within the consensus splice site of the intron. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies.

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