ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.2041-2A>G (rs776281864)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667861 SCV000792372 likely pathogenic Propionic acidemia 2017-06-15 criteria provided, single submitter clinical testing
Invitae RCV000667861 SCV001389676 pathogenic Propionic acidemia 2020-10-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 22 of the PCCA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs776281864, ExAC 0.02%). This variant has been observed in an individual affected with propionic acidemia (PMID: 12559849). ClinVar contains an entry for this variant (Variation ID: 552574). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 15235904). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PCCA are known to be pathogenic (PMID: 15464417). For these reasons, this variant has been classified as Pathogenic.

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