ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2891C>T (p.Pro964Leu)

gnomAD frequency: 0.00001  dbSNP: rs377120922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628391 SCV000749289 likely benign Gorlin syndrome 2024-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438623 SCV002750553 uncertain significance Hereditary cancer-predisposing syndrome 2025-01-14 criteria provided, single submitter clinical testing The p.P964L variant (also known as c.2891C>T), located in coding exon 18 of the PTCH1 gene, results from a C to T substitution at nucleotide position 2891. The proline at codon 964 is replaced by leucine, an amino acid with similar 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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