ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.4682dup (p.Phe1562fs) (rs1553845917)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554017 SCV000634597 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2017-01-13 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 38 of the CC2D2A mRNA (c.4682dupG), causing a frameshift at codon 1562. This creates a premature translational stop signal in the last exon of the CC2D2A mRNA (p.Phe1562Ilefs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 59 amino acids of the CC2D2A protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CC2D2A-related disease. Experimental studies have not been reported for this truncating variant and it is currently unknown if the last 59 amino acids of the CC2D2A protein are critical for its function. In summary, this is a novel truncation with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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