Submissions for variant NM_003738.5(PTCH2):c.1326del (p.Leu443fs)

dbSNP: rs755069524

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000795203	SCV000934649	uncertain significance	Gorlin syndrome	2023-12-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Leu443Serfs*91) 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. This variant is present in population databases (rs755069524, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with PTCH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 641865). 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.
CeGaT Center for Human Genetics Tuebingen	RCV001091840	SCV001248075	uncertain significance	not provided	2020-07-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005029458	SCV005652146	uncertain significance	Basal cell carcinoma, susceptibility to, 1; Medulloblastoma	2024-02-20	criteria provided, single submitter	clinical testing