ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) (rs398123419)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723562 SCV000110818 pathogenic not provided 2012-11-26 criteria provided, single submitter clinical testing
Counsyl RCV000078953 SCV000795841 likely pathogenic Metachromatic leukodystrophy 2017-11-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078953 SCV001448493 likely pathogenic Metachromatic leukodystrophy 2020-11-23 criteria provided, single submitter clinical testing Variant summary: ARSA c.991G>T (p.Glu331X) 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. The variant was absent in 212420 control chromosomes (gnomAD). c.991G>T has been reported in the literature in at least an individual affected with Metachromatic Leukodystrophy (Bertelli_2005). These data do not allow any conclusion about variant significance. ARSA activity from patient (who was compound heterozygous for the variant) derived leukocytes was found to be 6.7nm/h/mg (Bertelli_2005). One ClinVar submitter (evaluation after 2014) cite the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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