ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002439475 SCV002752183 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-14 criteria provided, single submitter clinical testing The p.C92Y variant (also known as c.275G>A), located in coding exon 2 of the PTCH1 gene, results from a G to A substitution at nucleotide position 275. The cysteine at codon 92 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102184 SCV003256958 benign Gorlin syndrome 2023-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005050574 SCV005679706 uncertain significance Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 2024-01-04 criteria provided, single submitter clinical testing

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