ClinVar Miner

Submissions for variant NM_015974.3(CRYL1):c.757G>A (p.Asp253Asn)

gnomAD frequency: 0.00083  dbSNP: rs145530540
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004123286 SCV003601677 uncertain significance not specified 2021-06-11 criteria provided, single submitter clinical testing The c.757G>A (p.D253N) alteration is located in exon 7 (coding exon 7) of the CRYL1 gene. This alteration results from a G to A substitution at nucleotide position 757, causing the aspartic acid (D) at amino acid position 253 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003953990 SCV004775856 likely benign CRYL1-related disorder 2020-02-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.