ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.179G>C (p.Arg60Pro)

dbSNP: rs750005732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV001172247 SCV000999153 likely pathogenic Metachromatic leukodystrophy criteria provided, single submitter clinical testing
GeneDx RCV001759675 SCV001985858 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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