ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)

dbSNP: rs1057516730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410152 SCV000486130 likely pathogenic Metachromatic leukodystrophy 2016-04-05 criteria provided, single submitter clinical testing
Molecular Genetic Laboratory, Kuwait Medical Genetic Center RCV000410152 SCV003925777 uncertain significance Metachromatic leukodystrophy 2023-05-24 no assertion criteria provided clinical testing This variant change has been reported by a single submitter as a likely pathogenic (Variation ID: 370738) in Metachromatic leukodystrophy (PMID: 26462614). We reported this variant in a homozygous state, as an incidental finding, in a lady with a history of epilepsy. Moreover, this lady has a daughter with epilepsy, and she is heterozygous for this variant. This raised a suspension on the clinical significance of this variant.

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