ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1398+1G>T (rs794727092)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724428 SCV000225798 pathogenic not provided 2014-12-02 criteria provided, single submitter clinical testing
Counsyl RCV000174489 SCV000791577 likely pathogenic Propionic acidemia 2017-05-19 criteria provided, single submitter clinical testing
Invitae RCV000174489 SCV001222728 pathogenic Propionic acidemia 2019-03-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the PCCB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with propionic acidemia (PMID: 8023851). ClinVar contains an entry for this variant (Variation ID: 194181). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 8023851). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PCCB are known to be pathogenic (PMID: 15464417). For these reasons, this variant has been classified as Pathogenic.

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