ClinVar Miner

Submissions for variant NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) (rs937670540)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004409 SCV001163412 pathogenic Spongy degeneration of central nervous system criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093137 SCV001249972 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV001004409 SCV001575909 likely pathogenic Spongy degeneration of central nervous system 2020-02-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 168 of the ASPA protein (p.Arg168Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Canavan disease (PMID: 8659549, 16854607). This variant has been reported to affect ASPA protein function (PMID: 8659549). This variant disrupts the p.Arg168 amino acid residue in ASPA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10909858, 28101991). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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