ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3641C>T (p.Ser1214Leu) (rs201595274)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492217 SCV000581071 likely benign Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Other data supporting benign classification
Integrated Genetics/Laboratory Corporation of America RCV000590100 SCV000696381 likely benign not provided 2017-08-22 criteria provided, single submitter clinical testing Variant summary: The PTCH1 c.3839C>T (p.Ser1280Leu) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict benign outcome for this variant. This variant was found in 25/113926 control chromosomes from ExAC at a frequency of 0.0002194, which is approximately 13 times the estimated maximal expected allele frequency of a pathogenic PTCH1 variant (0.0000171), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories in ClinVar have classified this variant as likely benign. To our knowledge, this variant has not been reported in affected individuals in literature, nor has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.
Invitae RCV000469382 SCV000560027 likely benign Gorlin syndrome 2017-10-10 criteria provided, single submitter clinical testing

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