ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile)

gnomAD frequency: 0.00002  dbSNP: rs878853850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233705 SCV000284328 benign Gorlin syndrome 2024-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015015 SCV001175799 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-26 criteria provided, single submitter clinical testing The p.T768I variant (also known as c.2303C>T), located in coding exon 15 of the PTCH1 gene, results from a C to T substitution at nucleotide position 2303. The threonine at codon 768 is replaced by isoleucine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005044474 SCV005679694 uncertain significance Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 2024-06-22 criteria provided, single submitter clinical testing

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