ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) (rs786204572)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169314 SCV000220639 likely pathogenic Spongy degeneration of central nervous system 2014-08-26 criteria provided, single submitter literature only
Invitae RCV000169314 SCV000963669 pathogenic Spongy degeneration of central nervous system 2019-01-09 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 181 of the ASPA protein (p.Pro181Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Canavan disease (PMID: 10909858, 16854607, 12638939). ClinVar contains an entry for this variant (Variation ID: 188940). This variant has been reported to affect ASPA protein function (PMID: 22750302, 22850825). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000169314 SCV001163413 pathogenic Spongy degeneration of central nervous system criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093138 SCV001249973 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing

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