ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.364C>T (p.Pro122Ser)

gnomAD frequency: 0.00003  dbSNP: rs756781117
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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 RCV002032983 SCV002114328 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2022-06-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs756781117, gnomAD 0.02%). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1347107). This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 122 of the CCDC78 protein (p.Pro122Ser).

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