ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.293_294insT (p.Arg99fs) (rs1603445003)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723374 SCV000110804 pathogenic not provided 2013-05-08 criteria provided, single submitter clinical testing
Counsyl RCV000020317 SCV000220940 likely pathogenic Metachromatic leukodystrophy 2014-12-09 criteria provided, single submitter literature only
Invitae RCV000020317 SCV001223293 pathogenic Metachromatic leukodystrophy 2019-10-07 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 98 of the ARSA protein (p.Ser98Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs74315456, ExAC 0.003%). This variant has been observed to be homozygous or in combination with another ARSA variant in individuals affected with metachromatic leukodystrophy (PMID: 1678251, 12809637, 23701968, 22993277). This variant is also known as c.287C>T, p.Ser96Phe in the literature. ClinVar contains an entry for this variant (Variation ID: 3054). This variant has been reported to affect ARSA protein function (PMID: 1678251). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003199 SCV000023357 pathogenic Metachromatic leukodystrophy, late infantile 1989-12-01 no assertion criteria provided literature only
GeneReviews RCV000020317 SCV000040692 pathologic Metachromatic leukodystrophy 2011-08-25 no assertion criteria provided curation Converted during submission to Pathogenic.

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