ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1228_1229del (p.Thr410fs)

dbSNP: rs2146716979
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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 RCV001532933 SCV001748740 pathogenic Metachromatic leukodystrophy 2021-06-17 criteria provided, single submitter clinical testing Variant summary: ARSA c.1228_1229delAC (p.Thr410HisfsX16) 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. The variant was absent in 238760 control chromosomes (gnomAD). c.1228_1229delAC has been reported in the literature in one homozygous individual affected with Metachromatic Leukodystrophy (Biffi_2008). These data indicate that the variant may be associated with disease. Experimental evidence evaluating an impact on protein function demonstrated the variant to confer a null residual activity (Cesani_2009). 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 pathogenic.

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