ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) (rs199476384)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524971 SCV000627145 pathogenic Metachromatic leukodystrophy 2019-05-21 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 249 of the ARSA protein (p.Phe249Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs199476384, ExAC 0.006%). This variant has been reported in multiple individuals affected with metachromatic leukodystrophy (PMID: 14680985, 26553228,23701968, 25965562, 24001781, Invitae). ClinVar contains an entry for this variant (Variation ID: 68149). This variant is also known as p.Phe247Ser in the literature. For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000058980 SCV000090501 not provided not provided no assertion provided not provided
Counsyl RCV000524971 SCV000789820 likely pathogenic Metachromatic leukodystrophy 2017-10-10 no assertion criteria provided clinical testing

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