ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.1553+6T>C (rs199567321)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306123 SCV000365433 uncertain significance Cone-rod dystrophy 15 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000494444 SCV000582523 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing The c.1553+6T>C variant in the CDHR1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the natural splice donor site in intron 14, and is predicted to cause abnormal gene splicing. The c.1553+6T>C variant is observed in 155/66730 (0.23%) alleles from individuals of non-Finnish European background in large population cohorts in the ExAC dataset (Lek et al., 2016). We interpret c.1553+6T>C as a variant of uncertain significance.
Invitae RCV000494444 SCV001026332 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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.