ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) (rs757430199)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761035 SCV000890950 uncertain significance Craniopharyngioma 2016-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014182 SCV001174864 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-29 criteria provided, single submitter clinical testing The p.G68E variant (also known as c.203G>A), located in coding exon 2 of the PTCH1 gene, results from a G to A substitution at nucleotide position 203. The glycine at codon 68 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001053046 SCV001217288 uncertain significance Gorlin syndrome 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 68 of the PTCH1 protein (p.Gly68Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs757430199, ExAC 0.002%). This variant has not been reported in the literature in individuals with PTCH1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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