ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) (rs398123414)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723526 SCV000110803 pathogenic not provided 2012-07-10 criteria provided, single submitter clinical testing
Neurometabolisches Labor,University hospital Tuebingen RCV000078942 SCV000586685 pathogenic Metachromatic leukodystrophy 2017-05-01 criteria provided, single submitter research
Counsyl RCV000078942 SCV000788912 likely pathogenic Metachromatic leukodystrophy 2016-12-23 criteria provided, single submitter clinical testing
Invitae RCV000078942 SCV001203142 pathogenic Metachromatic leukodystrophy 2019-05-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr65*) in the ARSA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with metachromatic leukodystrophy (PMID: 24001781, 28762252). This variant is also known as 189delC, Y63X in the literature. ClinVar contains an entry for this variant (Variation ID: 93121). Loss-of-function variants in ARSA are known to be pathogenic (PMID: 8962139, 10477432). For these reasons, this variant has been classified as Pathogenic.

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