ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2938G>A (p.Gly980Ser)

gnomAD frequency: 0.00002  dbSNP: rs778337760
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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 RCV000803696 SCV000943579 benign Gorlin syndrome 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440699 SCV002747808 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-16 criteria provided, single submitter clinical testing The p.G980S variant (also known as c.2938G>A), located in coding exon 18 of the PTCH1 gene, results from a G to A substitution at nucleotide position 2938. The glycine at codon 980 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, as a missense alteration, this is predicted to be deleterious by in silico analysis. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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