ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp)

gnomAD frequency: 0.00003  dbSNP: rs45535032
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168115 SCV000218771 likely benign Gorlin syndrome 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021985 SCV001183671 likely benign Hereditary cancer-predisposing syndrome 2018-04-06 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.
Sema4, Sema4 RCV001021985 SCV002535159 likely benign Hereditary cancer-predisposing syndrome 2021-09-24 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034577 SCV004219249 likely benign not provided 2023-08-14 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034577 SCV000043444 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Ambry Genetics RCV000210573 SCV000263006 uncertain significance Inborn genetic diseases 2014-07-15 flagged submission clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected

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