ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)

gnomAD frequency: 0.00003  dbSNP: rs138729094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462282 SCV000549084 likely benign Gorlin syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011386 SCV001171698 likely benign Hereditary cancer-predisposing syndrome 2023-04-05 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.
Baylor Genetics RCV000462282 SCV002030200 uncertain significance Gorlin syndrome 2021-04-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
ITMI RCV000121882 SCV000086084 not provided not specified 2013-09-19 no assertion provided reference population

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