ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu)

gnomAD frequency: 0.00001  dbSNP: rs863224648
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000198141 SCV000254450 likely benign Gorlin syndrome 2024-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165466 SCV003912825 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-24 criteria provided, single submitter clinical testing The p.F376L variant (also known as c.1128C>G), located in coding exon 8 of the PTCH1 gene, results from a C to G substitution at nucleotide position 1128. The phenylalanine at codon 376 is replaced by leucine, an amino acid with highly similar properties. This alteration has been reported as a variant of unknown significance in an individual with early onset breast cancer from a cohort of 1191 cancer index patients who underwent clinical evaluation and testing with multigene panels (Chan GHJ et al. Oncotarget, 2018 Jul;9:30649-30660). This amino acid position is highly 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.
Baylor Genetics RCV004567433 SCV005052497 uncertain significance Basal cell carcinoma, susceptibility to, 1 2024-03-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042424 SCV005679700 uncertain significance Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 2024-01-03 criteria provided, single submitter clinical testing

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