ClinVar Miner

Submissions for variant NM_181703.4(GJA5):c.433del (p.Leu145fs)

dbSNP: rs781802553
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000688023 SCV000815619 uncertain significance Atrial standstill 1; Atrial fibrillation, familial, 11 2024-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu145Serfs*14) in the GJA5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 214 amino acid(s) of the GJA5 protein. This variant is present in population databases (rs781802553, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with atrial fibrillation (PMID: 34495297). ClinVar contains an entry for this variant (Variation ID: 567837). 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.
GeneDx RCV001756167 SCV002007206 uncertain significance not provided 2022-10-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation as the last 214 amino acids are lost and replaced with 13 incorrect amino acids, although only one downstream loss-of-function variant has been reported in HGMD and loss-of-function is not an established mechanism of disease (HGMD); Not observed at significant frequency in large population cohorts (gnomAD)

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.