ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) (rs1375757476)

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Total submissions: 2
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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 RCV000588032 SCV000696812 pathogenic Metachromatic leukodystrophy 2017-03-09 criteria provided, single submitter clinical testing Variant summary: The ARSA c.960G>A (p.Trp320X) variant results in a premature termination codon, predicted to cause a truncated or absent ARSA protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Multiple publications have cited the variant in affected individuals (varying degrees of onset: late-infantile, juvenile, and adult), who were compound heterozygotes or homozygotes, with significantly lower to nondetectable ARSA enzymatic activity. Therefore, the variant of interest has been classified as "pathogenic."
Counsyl RCV000588032 SCV001132334 likely pathogenic Metachromatic leukodystrophy 2015-03-25 no assertion criteria provided clinical testing

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