ClinVar Miner

Submissions for variant NM_006261.4(PROP1):c.310del (p.Arg104fs) (rs786204663)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169459 SCV000220884 likely pathogenic Pituitary hormone deficiency, combined 2 2014-11-13 criteria provided, single submitter literature only
Invitae RCV001383202 SCV001582281 pathogenic not provided 2020-06-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PROP1 gene (p.Arg104Glyfs*61). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 123 amino acids of the PROP1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with growth hormone deficiency (PMID: 19128366). ClinVar contains an entry for this variant (Variation ID: 189062). 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, 15941866, Invitae). 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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