ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.244del (p.Arg82fs) (rs1569081823)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780862 SCV000918483 likely pathogenic Metachromatic leukodystrophy 2018-05-11 criteria provided, single submitter clinical testing Variant summary: ARSA c.244delC (p.Arg82GlyfsX26) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.960G>A/p.Trp320X). The variant was absent in 75724 control chromosomes. c.244delC has been reported in the literature in at-least one individual affected with Metachromatic Leukodystrophy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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