ClinVar Miner

Submissions for variant NM_006261.5(PROP1):c.112_124del (p.Ser38fs)

dbSNP: rs587776682
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385680 SCV001585626 pathogenic not provided 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser38Profs*123) in the PROP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 189 amino acid(s) of the PROP1 protein. This variant is present in population databases (rs587776682, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with pituitary hormone deficiency (PMID: 11134108, 15963055). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8101). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000008569 SCV004206526 pathogenic Pituitary hormone deficiency, combined, 2 2023-10-05 criteria provided, single submitter clinical testing
OMIM RCV000008569 SCV000028777 pathogenic Pituitary hormone deficiency, combined, 2 2000-12-01 no assertion criteria provided literature only
Endocrinology Clinic, Seth G.S. Medical College RCV000008569 SCV000191977 likely pathogenic Pituitary hormone deficiency, combined, 2 2013-10-31 no assertion criteria provided case-control
Counsyl RCV000008569 SCV000486770 pathogenic Pituitary hormone deficiency, combined, 2 2016-08-03 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
GeneReviews RCV000008569 SCV002500842 not provided Pituitary hormone deficiency, combined, 2 no assertion provided literature only Possible founder variant on Indian subcontinent [Turton et al 2005]

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