ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.2319+1del

dbSNP: rs1582180665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380018 SCV001577943 pathogenic not provided 2023-10-11 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 20 of the PHIP gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PHIP are known to be pathogenic (PMID: 27900362). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of PHIP-related conditions. (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 684552). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GenomeConnect, ClinGen RCV000845087 SCV000986937 not provided PHIP-Related Disorder no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 07/26/2017 by GTR ID Invitae. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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