ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.89T>C (p.Leu30Pro) (rs1555538144)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672147 SCV000797218 uncertain significance Spongy degeneration of central nervous system 2018-01-17 criteria provided, single submitter clinical testing
Invitae RCV000672147 SCV001375892 likely pathogenic Spongy degeneration of central nervous system 2019-09-23 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 30 of the ASPA protein (p.Leu30Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in the homozygous state in an individual affected with Canavan disease (PMID: 28101991). ClinVar contains an entry for this variant (Variation ID: 556181). This variant has been reported to affect ASPA protein function (PMID: 28101991). 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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