ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) (rs28940894)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795605 SCV000935073 pathogenic Metachromatic leukodystrophy 2020-06-23 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 288 of the ARSA protein (p.Thr288Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is present in population databases (rs28940894, ExAC 0.07%). This variant has been observed to be homozygous in individuals affected with metachromatic leukodystrophy (PMID: 12035837, 11061266). This variant is also known as Thr286Pro in the literature. ClinVar contains an entry for this variant (Variation ID: 3090). Experimental studies have shown that this missense change reduces ARSA enzyme activity in vitro (PMID: 12035837). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003236 SCV000023394 pathogenic Metachromatic leukodystrophy, adult type 2000-10-10 no assertion criteria provided literature only

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