ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)

gnomAD frequency: 0.00004  dbSNP: rs199476391
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000058946 SCV000110797 likely pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000150058 SCV001205880 pathogenic Metachromatic leukodystrophy 2023-12-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 392 of the ARSA protein (p.Arg392Gln). This variant is present in population databases (rs199476391, gnomAD 0.01%). This missense change has been observed in individual(s) with metachromatic leukodystrophy (PMID: 9452102, 20339381, 26462614; Invitae). This variant is also known as Arg390Gln. ClinVar contains an entry for this variant (Variation ID: 68116). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ARSA function (PMID: 9452102). For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000058946 SCV000090467 not provided not provided no assertion provided not provided
Counsyl RCV000150058 SCV000800617 uncertain significance Metachromatic leukodystrophy 2017-11-07 flagged submission clinical testing
Natera, Inc. RCV000150058 SCV002081641 pathogenic Metachromatic leukodystrophy 2020-07-27 no assertion criteria provided clinical testing
Gelb Laboratory, University of Washington RCV000150058 SCV005046774 not provided Metachromatic leukodystrophy no assertion provided in vitro

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