ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.1435-10T>C (rs772340385)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686609 SCV000814134 uncertain significance Amyotrophic lateral sclerosis 21 2018-04-13 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the MATR3 gene. It does not directly change the encoded amino acid sequence of the MATR3 protein. This variant is present in population databases (rs772340385, ExAC 0.003%). This variant has not been reported in the literature in individuals with MATR3-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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