ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3943C>T (p.Pro1315Ser)

gnomAD frequency: 0.00001  dbSNP: rs746022197
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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 RCV001957615 SCV002204857 benign Gorlin syndrome 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671536 SCV005157977 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-25 criteria provided, single submitter clinical testing The p.P1315S variant (also known as c.3943C>T), located in coding exon 23 of the PTCH1 gene, results from a C to T substitution at nucleotide position 3943. The proline at codon 1315 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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