ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.517_518del (p.Leu173fs) (rs755776820)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667712 SCV000792206 likely pathogenic Propionic acidemia 2017-06-09 criteria provided, single submitter clinical testing
Mendelics RCV000667712 SCV001136607 pathogenic Propionic acidemia 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000667712 SCV001399808 pathogenic Propionic acidemia 2020-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu173Glyfs*56) in the PCCB gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with propionic acidemia (PMID: 23430860). ClinVar contains an entry for this variant (Variation ID: 552452). 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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