ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) (rs753002023)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080435 SCV000284321 likely benign Gorlin syndrome 2020-11-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513814 SCV000610983 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563327 SCV000674454 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-23 criteria provided, single submitter clinical testing The p.Q663H variant (also known as c.1989G>C), located in coding exon 14 of the PTCH1 gene, results from a G to C substitution at nucleotide position 1989. The glutamine at codon 663 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics,Fulgent Genetics RCV000764847 SCV000896003 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000513814 SCV000970104 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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