ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs) (rs1553784721)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674212 SCV000799512 likely pathogenic Propionic acidemia 2018-04-27 criteria provided, single submitter clinical testing
Invitae RCV000674212 SCV001585945 pathogenic Propionic acidemia 2020-06-10 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the PCCB gene (p.Ile460Thrfs*89). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 80 amino acids of the PCCB protein and extend the protein by an additional 8 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 PCCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 558001). This variant disrupts the C-terminus of the PCCB protein. Other variant(s) that disrupt this region (p.Arg514*) have been determined to be pathogenic (PMID: 27227689, 11136555, 24059531, 11136555). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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