Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics, |
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. |