ClinVar Miner

Submissions for variant NM_006261.5(PROP1):c.74_75dup (p.His26fs) (rs1554182632)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673898 SCV000799152 likely pathogenic Pituitary hormone deficiency, combined 2 2018-04-05 criteria provided, single submitter clinical testing
Invitae RCV001381093 SCV001579345 pathogenic not provided 2020-06-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PROP1 gene (p.His26Aspfs*140). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 201 amino acids of the PROP1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PROP1-related conditions. This variant disrupts the C-terminus of the PROP1 protein. Other variant(s) that disrupt this region (p.Trp194*) have been determined to be pathogenic (PMID: 15941866, 20381582). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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