ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2001A>G (p.Ser667=) (rs2227970)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492364 SCV000581066 benign Hereditary cancer-predisposing syndrome 2015-02-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000119128 SCV000481304 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404883 SCV000481305 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586333 SCV000696373 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The PTCH1 c.2199A>G (p.Ser733Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant, 5/5 Alamut algorithms predict no change to splicing, and ESEfinder predicts the creation of exonic splice enhancers. However, these in silico predictions have not been validated by in vivo/vitro studies. This variant was found in 1767/121406 control chromosomes (21 homozygotes) at a frequency of 0.0145545, which is approximately 849 times the estimated maximal expected allele frequency of a pathogenic PTCH1 variant (0.0000171), highly suggesting this variant is a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. Based on the high prevalence in the general population, this variant was classified as Benign.
Invitae RCV000119128 SCV000153842 benign Gorlin syndrome 2017-08-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241838 SCV000303335 benign not specified criteria provided, single submitter clinical testing

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