ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.954G>A (p.Arg318=)

dbSNP: rs2040592459
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220662 SCV001392667 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2023-12-05 criteria provided, single submitter clinical testing This sequence change affects codon 318 of the CCDC78 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CCDC78 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with distal myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 949244). 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.

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