ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys) (rs147067171)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492441 SCV000581032 benign Hereditary cancer-predisposing syndrome 2016-07-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Integrated Genetics/Laboratory Corporation of America RCV000588636 SCV000696383 likely benign not provided 2016-08-31 criteria provided, single submitter clinical testing Variant summary: The PTCH1 c.3947A>G (p.Tyr1316Cys) variant involves the alteration of a conserved nucleotide. 2/3 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 74/115500 control chromosomes from ExAC at a frequency of 0.0006407, which is approximately 37 times the estimated maximal expected allele frequency of a pathogenic PTCH1 variant (0.0000171), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory in ClinVar has classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. One internal sample with this variant also carries FLCN c.584delG (p.G195fs*28). Taken together, this variant is currently classified as likely benign.
Invitae RCV000119172 SCV000153902 benign Gorlin syndrome 2018-01-13 criteria provided, single submitter clinical testing
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207364 SCV000259154 likely pathogenic Irido-corneo-trabecular dysgenesis; Rieger syndrome 2013-01-01 criteria provided, single submitter clinical testing rare variant, functional studies demonstrating is deleterious effect on protein.

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