ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs398123414
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000078942 SCV001203142 pathogenic Metachromatic leukodystrophy 2023-12-06 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. Loss-of-function variants in ARSA are known to be pathogenic (PMID: 8962139, 10477432). This variant is present in population databases (rs398123414, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with metachromatic leukodystrophy (PMID: 24001781, 28762252). This variant is also known as 189delC, Y63X. ClinVar contains an entry for this variant (Variation ID: 93121). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000078942 SCV002083908 pathogenic Metachromatic leukodystrophy 2020-08-20 no assertion criteria provided clinical testing

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