ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3495G>A (p.Glu1165=)

gnomAD frequency: 0.00001  dbSNP: rs374241960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734549 SCV000862699 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855816 SCV002126080 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-08 criteria provided, single submitter clinical testing This sequence change affects codon 1165 of the CC2D2A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CC2D2A protein. This variant also falls at the last nucleotide of exon 28, which is part of the consensus splice site for this exon. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 598213). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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