ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.537A>G (p.Thr179=) (rs1805154)

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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 RCV000492478 SCV000581009 benign Hereditary cancer-predisposing syndrome 2016-05-04 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 RCV000406017 SCV000481348 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119176 SCV000481349 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587665 SCV000696385 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The PTCH1 c.735A>G (p.Thr245Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant along with 5/5 splice site prediction tools predicting the variant not to have an impact on splicing. This variant was found in 2760/120306 control chromosomes (42 homozygotes) at a frequency of 0.0229415, which is approximately 1339 times the estimated maximal expected allele frequency of a pathogenic PTCH1 variant (0.0000171), suggesting this variant is likely a benign polymorphism. One clinical diagnostic laboratory classified this variant as Benign. Additionally, the variant has been reported in the literature as a polymorphism (Musani_Gene_2013).Taken together and based on the high frequency in the general population, this variant is classified as Benign.
Invitae RCV000119176 SCV000153908 benign Gorlin syndrome 2017-08-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248813 SCV000303362 benign not specified criteria provided, single submitter clinical testing

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