ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.418C>G (p.His140Asp) (rs199476358)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667286 SCV000791714 uncertain significance Metachromatic leukodystrophy 2017-05-26 criteria provided, single submitter clinical testing
Invitae RCV000667286 SCV001401371 likely pathogenic Metachromatic leukodystrophy 2019-09-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with aspartic acid at codon 140 of the ARSA protein (p.His140Asp). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with metachromatic leukodystrophy (PMID: 18786133, Invtiae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 68132). This variant has been reported to affect ARSA protein function (PMID: 19606494). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
UniProtKB/Swiss-Prot RCV000058963 SCV000090484 not provided not provided no assertion provided not provided

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