ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3706G>A (p.Glu1236Lys)

gnomAD frequency: 0.00001  dbSNP: rs779844193
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054749 SCV001219099 benign Gorlin syndrome 2024-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348408 SCV002623332 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-12 criteria provided, single submitter clinical testing The p.E1236K variant (also known as c.3706G>A), located in coding exon 22 of the PTCH1 gene, results from a G to A substitution at nucleotide position 3706. The glutamic acid at codon 1236 is replaced by lysine, an amino acid with similar properties. This amino acid position is well 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.
PreventionGenetics, part of Exact Sciences RCV004553598 SCV004104503 uncertain significance PTCH1-related disorder 2023-07-13 criteria provided, single submitter clinical testing The PTCH1 c.3706G>A variant is predicted to result in the amino acid substitution p.Glu1236Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-98211449-C-T) and has conflicting interpretations of pathogenicity in ClinVar ranging from likely benign to uncertain (http://www.ncbi.nlm.nih.gov/clinvar/variation/850559). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV005005012 SCV005628292 uncertain significance not provided 2024-07-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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