ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr)

gnomAD frequency: 0.00001  dbSNP: rs945517672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422027 SCV000516515 likely benign not specified 2015-06-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000685775 SCV000813272 likely benign Gorlin syndrome 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020745 SCV001182259 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-12 criteria provided, single submitter clinical testing The p.A1208T variant (also known as c.3622G>A), located in coding exon 22 of the PTCH1 gene, results from a G to A substitution at nucleotide position 3622. The alanine at codon 1208 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000685775 SCV004017152 likely benign Gorlin syndrome 2023-07-07 criteria provided, single submitter clinical testing

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