ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002403870 SCV002708404 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-12 criteria provided, single submitter clinical testing The p.T351S variant (also known as c.1052C>G), located in coding exon 7 of the PTCH1 gene, results from a C to G substitution at nucleotide position 1052. The threonine at codon 351 is replaced by serine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003097081 SCV003353668 benign Gorlin syndrome 2022-04-22 criteria provided, single submitter clinical testing

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