ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2943T>G (p.Leu981=) (rs2066835)

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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 RCV000492323 SCV000581060 benign Hereditary cancer-predisposing syndrome 2016-04-01 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 RCV000352228 SCV000481278 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391414 SCV000481279 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588210 SCV000696377 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The c.3141T>C (p.Leu1047=) in PTCH1 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.0239 (2894/120918 chrs tested), predominantly in individuals of African origin (0.1145; 1179/10292 control chrs) including numerous homozygous occurrences. This frequency exceeds the maximal expected frequency of a pathogenic allele (0.00007) in this gene. The variant of interest was cited as Polymorphism in published reports (Sun, 2008 and Musani, 2013). Taking together, the variant was classified as Benign.
Invitae RCV000391414 SCV000560033 benign Gorlin syndrome 2017-08-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245421 SCV000303344 benign not specified criteria provided, single submitter clinical testing

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