ClinVar Miner

Submissions for variant NM_006261.4(PROP1):c.349T>A (p.Phe117Ile) (rs121917840)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000008564 SCV000220413 likely pathogenic Pituitary hormone deficiency, combined 2 2014-06-14 criteria provided, single submitter literature only
Invitae RCV001053358 SCV001217616 pathogenic not provided 2020-10-20 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with isoleucine at codon 117 of the PROP1 protein (p.Phe117Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine. This variant is present in population databases (rs121917840, ExAC 0.03%). This variant has been observed to segregate with pituitary hormone deficiency (PHD) in a family and has also been observed in several individuals affected with PHD (PMID: 17526936, 21132537, 9462743). ClinVar contains an entry for this variant (Variation ID: 8096). This variant has been reported to affect PROP1 protein function (PMID: 9462743). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008564 SCV000028772 pathogenic Pituitary hormone deficiency, combined 2 1998-02-01 no assertion criteria provided literature only

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