ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.922T>C (p.Tyr308His)

dbSNP: rs199476379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670369 SCV000795212 uncertain significance Metachromatic leukodystrophy 2017-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670369 SCV001588980 pathogenic Metachromatic leukodystrophy 2020-07-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has been observed in individual(s) with metachromatic leukodystrophy (PMID: 14517960, 19815439). It is also known as Tyr306His or Y306H in the literature. ClinVar contains an entry for this variant (Variation ID: 68161). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 308 of the ARSA protein (p.Tyr308His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine.
UniProtKB/Swiss-Prot RCV000058993 SCV000090514 not provided not provided no assertion provided not provided

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