ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2437G>A (p.Asp813Asn) (rs750373573)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571728 SCV000674553 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761176 SCV000891092 uncertain significance B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 2017-05-23 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764844 SCV000896000 uncertain significance Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000200138 SCV000254462 uncertain significance Gorlin syndrome 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 879 of the PTCH1 protein (p.Asp879Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs750373573, ExAC 0.006%). This variant has not been reported in the literature in individuals with PTCH1-related disease. ClinVar contains an entry for this variant (Variation ID: 216378). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.