ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)

gnomAD frequency: 0.00004  dbSNP: rs750373573
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200138 SCV000254462 likely benign Gorlin syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571728 SCV000674553 likely benign Hereditary cancer-predisposing syndrome 2021-01-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000200138 SCV000891092 uncertain significance Gorlin syndrome 2021-02-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764844 SCV000896000 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571728 SCV002526861 likely benign Hereditary cancer-predisposing syndrome 2021-09-01 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477667 SCV004219188 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0001 (13/129200 chromosomes in European (Non-Finnish) subpopulation, http://gnomad.broadinstitute.org), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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