ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp)

gnomAD frequency: 0.00159  dbSNP: rs145274257
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518150 SCV000612690 likely benign not provided 2019-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000559318 SCV000652743 benign Congenital myopathy with internal nuclei and atypical cores 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000518150 SCV001870260 benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601192 SCV005099152 uncertain significance Inborn genetic diseases 2024-05-01 criteria provided, single submitter clinical testing The c.384G>T (p.E128D) alteration is located in exon 4 (coding exon 4) of the CCDC78 gene. This alteration results from a G to T substitution at nucleotide position 384, causing the glutamic acid (E) at amino acid position 128 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003915450 SCV004739443 likely benign CCDC78-related disorder 2019-05-22 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.