ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.548_549delinsGA (p.Leu183Arg)

dbSNP: rs2151561882
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001881344 SCV002152504 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2021-04-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 183 of the CCDC78 protein (p.Leu183Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with CCDC78-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database.

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