ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp)

gnomAD frequency: 0.00001  dbSNP: rs1296158476
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
Athena Diagnostics RCV000991779 SCV001143520 uncertain significance not provided 2018-12-24 criteria provided, single submitter clinical testing
Invitae RCV001213564 SCV001385200 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2023-05-16 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 379 of the CCDC78 protein (p.Gly379Asp). This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 804682).

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.