ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4300G>T (p.Asp1434Tyr)

dbSNP: rs1564004355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258509 SCV002535166 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-09 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999678 SCV005623758 uncertain significance not provided 2024-01-10 criteria provided, single submitter clinical testing The PTCH1 c.4300G>T (p.Asp1434Tyr) variant has not been reported in individuals with PTCH1-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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