ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2945G>A (p.Arg982Gln)

gnomAD frequency: 0.00001  dbSNP: rs145924695
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553221 SCV000622978 benign Gorlin syndrome 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433641 SCV002752479 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-17 criteria provided, single submitter clinical testing The p.R982Q variant (also known as c.2945G>A), located in coding exon 18 of the PTCH1 gene, results from a G to A substitution at nucleotide position 2945. The arginine at codon 982 is replaced by glutamine, an amino acid with highly similar properties. This alteration has also been reported as a variant of unknown significance in an exome cohort, but clinical history was not provided (Amendola LM et al. Genome Res. 2015 Mar;25:305-15). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477565 SCV004219203 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in an exome cohort (PMID: 25637381 (2015)). The frequency of this variant in the general population, 0.00013 (4/30604 chromosomes in South Asian subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Additional analysis using software algorithms for the prediction of the effect of nucleotide changes on PTCH1 mRNA splicing yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites . Based on the available information, we are unable to determine the clinical significance of this variant.
CSER _CC_NCGL, University of Washington RCV000148763 SCV000190500 uncertain significance Congenital heart disease 2014-06-01 no assertion criteria provided research

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