ClinVar Miner

Submissions for variant NM_000049.4(ASPA):c.904dup (p.Thr302fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376834 SCV001574007 likely pathogenic Spongy degeneration of central nervous system 2020-09-19 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the ASPA gene (p.Thr302Asnfs*32). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 12 amino acids of the ASPA protein and extend the protein by an additional 20 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ASPA-related conditions. This variant disrupts the p.Ala305 amino acid residue in ASPA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8023850, 22850825, 10909858). 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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