ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile)

gnomAD frequency: 0.00042  dbSNP: rs201085386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902745 SCV001047180 likely benign Metachromatic leukodystrophy 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV002269326 SCV002553123 uncertain significance not provided 2022-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as p.(T494I)
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000902745 SCV003807420 uncertain significance Metachromatic leukodystrophy 2023-01-29 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting

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