ClinVar Miner

Submissions for variant NM_016077.5(PTRH2):c.324G>A (p.Trp108Ter)

dbSNP: rs1268684924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508790 SCV002818227 pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
GeneDx RCV002508790 SCV005419488 likely pathogenic not provided 2024-05-31 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation as the last 72 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37239392, 31057140, 36703223)
OMIM RCV001799712 SCV000999907 pathogenic Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 2021-07-08 no assertion criteria provided literature only

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