ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)

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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 RCV002349325 SCV002623000 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-07 criteria provided, single submitter clinical testing The p.H1252Y variant (also known as c.3754C>T), located in coding exon 22 of the PTCH1 gene, results from a C to T substitution at nucleotide position 3754. The histidine at codon 1252 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is not 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003108018 SCV003781501 benign Gorlin syndrome 2023-05-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003471338 SCV004206589 uncertain significance Basal cell carcinoma, susceptibility to, 1 2023-08-15 criteria provided, single submitter clinical testing

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