ClinVar Miner

Submissions for variant NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)

gnomAD frequency: 0.00002  dbSNP: rs775353413
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000344060 SCV000342287 uncertain significance not provided 2016-05-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764595 SCV000895691 uncertain significance Pituitary hormone deficiency, combined, 2 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000344060 SCV001066531 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000764595 SCV001457808 likely benign Pituitary hormone deficiency, combined, 2 2020-04-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004755846 SCV005353018 likely benign PROP1-related disorder 2024-04-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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