ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln)

gnomAD frequency: 0.00002  dbSNP: rs773676486
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438185 SCV000521497 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000534022 SCV000623028 likely benign Gorlin syndrome 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021988 SCV001183674 likely benign Hereditary cancer-predisposing syndrome 2023-01-30 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.
GenomeConnect - Invitae Patient Insights Network RCV000534022 SCV004228738 not provided Gorlin syndrome no assertion provided phenotyping only Variant interpreted as Likely benign and reported on 11-11-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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