ClinVar Miner

Submissions for variant NM_016077.5(PTRH2):c.127dup (p.Ser43fs)

dbSNP: rs777064652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002282527 SCV002571304 likely pathogenic not provided 2022-03-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 137 amino acids are replaced with 10 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33092935, 32637629)
OMIM RCV001799762 SCV001547512 pathogenic Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 2021-07-08 no assertion criteria provided literature only

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