ClinVar Miner

Submissions for variant NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter)

dbSNP: rs2147139830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM 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).

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