ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.487C>T (p.Arg163Ter)

dbSNP: rs2127760440
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002225173 SCV002503702 likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2022-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature termination codon at position 163 in exon 7 (of 40) of PHIP (p.(Arg163*)). It is expected to result in nonsense-mediated decay, in a gene where loss of function is expected to be the mechanism of disease (ClinGen). The variant is absent in a large population cohort (gnomAD v2.1 and gnomAD v3.1), and has not been reported in the relevant medical literature or databases. Based on the classification scheme RMH Modified ACMG Guidelines v1.3.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PVS1, PM2_Supporting.

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