ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2975A>G (p.Glu992Gly)

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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 RCV003878348 SCV004676992 benign Gorlin syndrome 2023-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004369595 SCV005034211 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-20 criteria provided, single submitter clinical testing The p.E992G variant (also known as c.2975A>G), located in coding exon 18 of the PTCH1 gene, results from an A to G substitution at nucleotide position 2975. The glutamic acid at codon 992 is replaced by glycine, an amino acid with similar properties. 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.

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