ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1332G>T (p.Leu444=)

gnomAD frequency: 0.00003  dbSNP: rs540031338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887581 SCV001031147 likely benign Metachromatic leukodystrophy 2024-09-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000887581 SCV001456229 likely benign Metachromatic leukodystrophy 2020-04-30 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003948386 SCV004763907 likely benign ARSA-related disorder 2019-03-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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