ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.293G>A (p.Cys98Tyr)

gnomAD frequency: 0.00001  dbSNP: rs746435405
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206189 SCV000261157 benign Gorlin syndrome 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433907 SCV002750224 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-16 criteria provided, single submitter clinical testing The p.C98Y variant (also known as c.293G>A), located in coding exon 2 of the PTCH1 gene, results from a G to A substitution at nucleotide position 293. The cysteine at codon 98 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004760437 SCV005371249 uncertain significance not provided 2024-03-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26415585, 29991641)

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