ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.209T>C (p.Leu70Pro)

dbSNP: rs199476351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003500500 SCV004300078 pathogenic Metachromatic leukodystrophy 2023-02-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 70 of the ARSA protein (p.Leu70Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with metachromatic leukodystrophy (PMID: 10477432). This variant is also known as L68P. ClinVar contains an entry for this variant (Variation ID: 68124). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ARSA protein function.
UniProtKB/Swiss-Prot RCV000058954 SCV000090475 not provided not provided no assertion provided not provided

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