Submissions for variant NM_001378030.1(CCDC78):c.477C>T (p.His159=)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV005103070	SCV005822972	uncertain significance	Congenital myopathy with internal nuclei and atypical cores	2024-04-17	criteria provided, single submitter	clinical testing	This sequence change affects codon 159 of the CCDC78 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CCDC78 protein. This variant is present in population databases (rs776425669, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
PreventionGenetics, part of Exact Sciences	RCV003979205	SCV004791599	likely benign	CCDC78-related disorder	2019-04-29	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).