ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.688G>A (p.Ala230Thr)

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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 RCV002616519 SCV003509409 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2022-06-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 230 of the CCDC78 protein (p.Ala230Thr). This variant is present in population databases (rs375089115, 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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