ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=) (rs371608031)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442925 SCV000530606 uncertain significance not provided 2016-08-03 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CC2D2A gene. The c.3135 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.3135 G>A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a nucleotide position that is conserved in mammals. Several in-silico splice prediction models predict that c.3135 G>A creates a cryptic donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000765760 SCV000897148 uncertain significance COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9 2018-10-31 criteria provided, single submitter clinical testing

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