ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.1093G>T (p.Glu365Ter)

gnomAD frequency: 0.00001  dbSNP: rs1344552083
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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 RCV001363800 SCV001559927 uncertain significance Gorlin syndrome 2020-10-20 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, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with PTCH2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu365*) 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.
GenomeConnect, ClinGen RCV001363800 SCV002075063 not provided Gorlin syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-26-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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