ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2485G>A (p.Val829Met)

gnomAD frequency: 0.00015  dbSNP: rs201125580
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082796 SCV000219006 benign Gorlin syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570547 SCV000674513 benign Hereditary cancer-predisposing syndrome 2022-08-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4 RCV000570547 SCV002526852 likely benign Hereditary cancer-predisposing syndrome 2021-12-14 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034566 SCV002774228 benign not provided 2023-01-18 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034566 SCV000043454 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Genetic Services Laboratory, University of Chicago RCV003150938 SCV003839932 uncertain significance not specified 2022-05-17 no assertion criteria provided clinical testing DNA sequence analysis of the PTCH1 gene demonstrated a sequence change, c.2485G>A, in exon 15 that results in an amino acid change, p.Val829Met. This sequence change does not appear to have been previously described in individuals with PTCH1-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.4% in the Ashkenazi Jewish subpopulation (dbSNP rs201125580). The p.Val829Met change affects a moderately conserved amino acid residue located in a domain of the PTCH1 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Val829Met substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Val829Met change remains unknown at this time.

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