ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1302_1303del (p.Tyr435fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306863 SCV002603954 likely pathogenic Propionic acidemia 2022-04-06 criteria provided, single submitter clinical testing NM_000532.4(PCCB):c.1302_1303delCT(Y435Wfs*5) is expected to be pathogenic in the context of PCCB-related propionic acidemia. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PCCB, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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