ClinVar Miner

Submissions for variant NM_000049.4(ASPA):c.941A>G (p.Ter314Trp) (rs745832703)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222487 SCV001394586 likely pathogenic Spongy degeneration of central nervous system 2020-05-12 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the ASPA mRNA. It is expected to extend the length of the ASPA protein by 45 additional amino acid residues. This variant is present in population databases (rs745832703, ExAC 0.01%). This variant has been observed in individuals affected with Canavan disease (PMID: 12638939, Invitae). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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