ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.1979C>A (p.Ser660Tyr)

gnomAD frequency: 0.00002  dbSNP: rs376282577
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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 RCV001344627 SCV001538692 uncertain significance Gorlin syndrome 2023-04-08 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 PTCH2 protein function. ClinVar contains an entry for this variant (Variation ID: 1040898). This variant has not been reported in the literature in individuals affected with PTCH2-related conditions. This variant is present in population databases (rs376282577, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 660 of the PTCH2 protein (p.Ser660Tyr).
Fulgent Genetics, Fulgent Genetics RCV005014459 SCV005650041 uncertain significance Basal cell carcinoma, susceptibility to, 1; Medulloblastoma 2024-02-08 criteria provided, single submitter clinical testing

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