ClinVar Miner

Submissions for variant NM_145038.5(DRC1):c.1247C>G (p.Ala416Gly)

gnomAD frequency: 0.00022  dbSNP: rs202052258
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000814460 SCV000954871 uncertain significance Primary ciliary dyskinesia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 416 of the DRC1 protein (p.Ala416Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs202052258, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with DRC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 657775). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
Ambry Genetics RCV004972996 SCV005576062 uncertain significance Inborn genetic diseases 2024-08-26 criteria provided, single submitter clinical testing The c.1247C>G (p.A416G) alteration is located in exon 10 (coding exon 10) of the DRC1 gene. This alteration results from a C to G substitution at nucleotide position 1247, causing the alanine (A) at amino acid position 416 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029500 SCV005655916 uncertain significance Primary ciliary dyskinesia 21; Spermatogenic failure 80 2024-01-30 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.