Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691985 | SCV000819789 | uncertain significance | Gorlin syndrome | 2023-08-27 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 expected to disrupt PTCH2 protein function. ClinVar contains an entry for this variant (Variation ID: 570977). This variant has not been reported in the literature in individuals affected with PTCH2-related conditions. This variant is present in population databases (rs768246990, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 37 of the PTCH2 protein (p.Arg37Cys). |
Fulgent Genetics, |
RCV000765171 | SCV000896404 | uncertain significance | Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Medulloblastoma | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003343995 | SCV004061324 | uncertain significance | Inborn genetic diseases | 2023-07-12 | criteria provided, single submitter | clinical testing | The c.109C>T (p.R37C) alteration is located in exon 2 (coding exon 2) of the PTCH2 gene. This alteration results from a C to T substitution at nucleotide position 109, causing the arginine (R) at amino acid position 37 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |