ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1443C>T (p.Ser481=) (rs2066830)

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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 RCV000492652 SCV000581007 benign Hereditary cancer-predisposing syndrome 2016-07-20 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 RCV000119130 SCV000481324 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406491 SCV000481325 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586447 SCV000696370 benign not provided 2016-08-30 criteria provided, single submitter clinical testing Variant summary: The PTCH1 c.1641C>T (p.Ser547Ser) 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. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 994/110038 control chromosomes (7 homozygotes) at a frequency of 0.0090332, which is approximately 527 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 classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000119130 SCV000153844 benign Gorlin syndrome 2018-01-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000254027 SCV000303326 benign not specified criteria provided, single submitter clinical testing

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