ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1344dup (p.Gly449fs) (rs761555167)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674168 SCV000799456 likely pathogenic Metachromatic leukodystrophy 2018-04-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000674168 SCV001338124 pathogenic Metachromatic leukodystrophy 2020-01-31 criteria provided, single submitter clinical testing Variant summary: ARSA c.1344dupC (p.Gly449ArgfsX124) causes a frameshift which results in an extension of the protein. The variant allele was found at a frequency of 2e-05 in 249430 control chromosomes. c.1344dupC has been reported in the literature in individuals affected with Metachromatic Leukodystrophy (example, Wang_2007, Liaw_2015, Wang_2016, Li_2018). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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