ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3536A>G (p.Gln1179Arg) (rs767792734)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472214 SCV000549111 uncertain significance Gorlin syndrome 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1245 of the PTCH1 protein (p.Gln1245Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs767792734, ExAC 0.006%). This variant has not been reported in the literature in individuals with a PTCH1-related disease. ClinVar contains an entry for this variant (Variation ID: 409208). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on PTCH1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764841 SCV000895997 uncertain significance Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021000 SCV001182560 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-21 criteria provided, single submitter clinical testing Insufficient evidence

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