ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile)

gnomAD frequency: 0.00028  dbSNP: rs200873074
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862785 SCV001003337 likely benign Gorlin syndrome 2023-12-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000862785 SCV001482904 uncertain significance Gorlin syndrome 2019-03-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000862785 SCV003843121 uncertain significance Gorlin syndrome 2022-10-24 criteria provided, single submitter clinical testing The PTCH2 c.2902G>A (p.Val968Ile) missense change has a maximum subpopulation frequency of 0.073% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with nevoid basal cell carcinoma syndrome. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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