ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.427del (p.Val143fs) (rs766914147)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677561 SCV000803074 pathogenic Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Frameshift variant(PVS1); In vitro functional studies supportive of a damaging effect on the gene product (demonstrated nonsense mediated RNA decay; PS3); Very low frequency in ExAc (PM2)
Integrated Genetics/Laboratory Corporation of America RCV000779748 SCV000916523 pathogenic Metachromatic leukodystrophy 2017-12-04 criteria provided, single submitter clinical testing Variant summary: The ARSB c.427delG (p.Val143SerfsX41) variant results in a premature termination codon, predicted to cause a truncated or absent ARSB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 6/277178 control chromosomes at a frequency of 0.0000216, which does not exceed the estimated maximal expected allele frequency of a pathogenic ARSB variant (0.0022361). The variant has been reported in numerous affected individuals in the literature. Taken together, this variant is classified as pathogenic.

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