ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe)

dbSNP: rs761688859
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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 RCV000692022 SCV000819829 likely benign Gorlin syndrome 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303132 SCV003996461 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-13 criteria provided, single submitter clinical testing The p.L1311F variant (also known as c.3933G>T), located in coding exon 23 of the PTCH1 gene, results from a G to T substitution at nucleotide position 3933. The leucine at codon 1311 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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