ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1733C>T (p.Ala578Val)

gnomAD frequency: 0.00001  dbSNP: rs960630296
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012898 SCV001173412 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-02 criteria provided, single submitter clinical testing The p.A578V variant (also known as c.1733C>T), located in coding exon 13 of the PTCH1 gene, results from a C to T substitution at nucleotide position 1733. The alanine at codon 578 is replaced by valine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001301210 SCV001490372 uncertain significance Gorlin syndrome 2024-04-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 578 of the PTCH1 protein (p.Ala578Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PTCH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 819935). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PTCH1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238264 SCV002009316 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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