ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1467T>C (p.Asn489=) (rs1805155)

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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 RCV000492326 SCV000580997 benign Hereditary cancer-predisposing syndrome 2014-12-04 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 RCV000284231 SCV000481320 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346189 SCV000481321 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587264 SCV000696371 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The PTCH1 c.1665T>C (p.Asn555Asn) 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. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SRp55. This variant was found in 12470/115592 control chromosomes (719 homozygotes) at a frequency of 0.1078794, which is approximately 6295 times the estimated maximal allele frequency of a pathogenic PTCH1 variant (0.0000171), suggesting this variant is a benign polymorphism. This variant has been reported in multiple affected individuals in co-occurrence with different pathogenic variants (Pastorino_Human_Mutation_2005), further supporting the benign classification. In addition, another clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000284231 SCV000622926 benign Gorlin syndrome 2017-07-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245867 SCV000303327 benign not specified criteria provided, single submitter clinical testing

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