ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.1298G>A (p.Gly433Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003649046 SCV004549736 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2022-11-02 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. This variant is present in population databases (rs746845893, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 432 of the CCDC78 protein (p.Ala432Thr).

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