ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu)

gnomAD frequency: 0.00002  dbSNP: rs745392382
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 RCV000534408 SCV000652741 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2023-01-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 122 of the CCDC78 protein (p.Pro122Leu). This variant is present in population databases (rs745392382, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. ClinVar contains an entry for this variant (Variation ID: 473257). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CCDC78 protein function. 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 RCV001755887 SCV002007083 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601206 SCV005099154 uncertain significance Inborn genetic diseases 2024-05-31 criteria provided, single submitter clinical testing The c.365C>T (p.P122L) alteration is located in exon 4 (coding exon 4) of the CCDC78 gene. This alteration results from a C to T substitution at nucleotide position 365, causing the proline (P) at amino acid position 122 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.