Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV001823429 | SCV002072858 | likely pathogenic | Focal dermal hypoplasia | criteria provided, single submitter | clinical testing | The stop gained p.R396* in PORCN (NM_203475.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.R396* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. For these reasons, this variant has been classified as Likely Pathogenic. | |
Invitae | RCV001869813 | SCV002109458 | pathogenic | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1338975). This premature translational stop signal has been observed in individual(s) with focal dermal hypoplasia (PMID: 19309688). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg396*) in the PORCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PORCN are known to be pathogenic (PMID: 17546030, 19309688). |