ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter)

dbSNP: rs759380520
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496130 SCV000586794 likely pathogenic Syndromic intellectual disability 2017-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003727740 SCV004538863 pathogenic not provided 2023-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1298*) in the PHIP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHIP are known to be pathogenic (PMID: 27900362). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with PHIP-related disorders (PMID: 28708303, 29209020). ClinVar contains an entry for this variant (Variation ID: 431155). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV003727740 SCV005197126 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing
GeneDx RCV003727740 SCV005689955 pathogenic not provided 2024-08-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28708303, 30568311, 29209020)

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