ClinVar Miner

Submissions for variant NM_199189.3(MATR3):c.-339+2T>A

gnomAD frequency: 0.00009  dbSNP: rs539017488
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001944795 SCV002133091 uncertain significance Amyotrophic lateral sclerosis type 21 2021-01-12 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. This variant has been observed in individual(s) with sporadic amyotrophic lateral sclerosis (PMID: 26493020). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change falls in intron 2 of the MATR3 gene. It does not directly change the encoded amino acid sequence of the MATR3 protein. It affects a nucleotide within the consensus splice site of the intron.

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