ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) (rs74315479)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723624 SCV000110796 pathogenic not provided 2013-04-18 criteria provided, single submitter clinical testing
Invitae RCV000078936 SCV000752522 pathogenic Metachromatic leukodystrophy 2020-09-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 384 of the ARSA protein (p.Glu384Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs74315479, ExAC 0.02%). This variant has been observed as homozygous or in combination with another ARSA pathogenic variant in several individuals affected with metachromatic leukodystrophy (PMID: 26462614, 7906588, 15375602, 20339381, 19021637). This variant is also known as c.1144G>A or E382K in the literature. ClinVar contains an entry for this variant (Variation ID: 3084). Experimental studies have shown that this missense change causes a splicing defect resulting in the skipping of exon 7 (PMID: 15375602). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000078936 SCV000793445 likely pathogenic Metachromatic leukodystrophy 2017-08-18 criteria provided, single submitter clinical testing
Mendelics RCV000078936 SCV001141461 pathogenic Metachromatic leukodystrophy 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000003230 SCV000023388 pathogenic Arylsulfatase a pseudodeficiency, intermediate 1994-09-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000723624 SCV001809416 likely pathogenic not provided no assertion criteria provided clinical testing

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