ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val)

gnomAD frequency: 0.00001  dbSNP: rs1838656000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233608 SCV001406210 uncertain significance Gorlin syndrome 2022-11-15 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 960138). This variant has not been reported in the literature in individuals affected with PTCH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1134 of the PTCH1 protein (p.Leu1134Val).
Ambry Genetics RCV003166434 SCV003859583 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-10 criteria provided, single submitter clinical testing The p.L1134V variant (also known as c.3400C>G), located in coding exon 20 of the PTCH1 gene, results from a C to G substitution at nucleotide position 3400. The leucine at codon 1134 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003462793 SCV004206639 uncertain significance Basal cell carcinoma, susceptibility to, 1 2023-05-26 criteria provided, single submitter clinical testing

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