ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.654+462A>G (rs1576327011)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012799 SCV001591311 pathogenic Propionic acidemia 2020-09-09 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the PCCB gene. It does not directly change the encoded amino acid sequence of the PCCB protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individuals with propionic acidemia (PMID: 17966092, 20549364, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 12019). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 17966092). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012799 SCV000033039 pathogenic Propionic acidemia 2007-12-01 no assertion criteria provided literature only

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