ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)

gnomAD frequency: 0.00002  dbSNP: rs781204167
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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 RCV000808436 SCV000948545 uncertain significance Gorlin syndrome 2022-10-03 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PTCH2 protein function. ClinVar contains an entry for this variant (Variation ID: 652794). This variant has not been reported in the literature in individuals affected with PTCH2-related conditions. This variant is present in population databases (rs781204167, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 83 of the PTCH2 protein (p.Glu83Lys).
Fulgent Genetics, Fulgent Genetics RCV002487739 SCV002777841 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Medulloblastoma 2022-04-16 criteria provided, single submitter clinical testing

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