ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.435+7A>G

gnomAD frequency: 0.00001  dbSNP: rs751070375
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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 RCV001929197 SCV002200933 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2023-09-01 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1423930). This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. This variant is present in population databases (rs751070375, gnomAD 0.002%). This sequence change falls in intron 4 of the CCDC78 gene. It does not directly change the encoded amino acid sequence of the CCDC78 protein.

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