ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.1189del (p.Arg397fs)

dbSNP: rs778199787
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732476 SCV000860441 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855774 SCV002281155 uncertain significance Gorlin syndrome 2023-06-14 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. ClinVar contains an entry for this variant (Variation ID: 596587). This variant has not been reported in the literature in individuals affected with PTCH2-related conditions. This variant is present in population databases (rs778199787, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Arg397Valfs*15) in the PTCH2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PTCH2 cause disease.
Breakthrough Genomics, Breakthrough Genomics RCV000732476 SCV005186661 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005021137 SCV005652177 uncertain significance Basal cell carcinoma, susceptibility to, 1; Medulloblastoma 2024-02-07 criteria provided, single submitter clinical testing

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