ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.438G>A (p.Glu146=)

dbSNP: rs1215345163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730345 SCV000858074 uncertain significance not provided 2017-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855636 SCV002295809 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-06-29 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 594940). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 146 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 7, which is part of the consensus splice site for this exon.
Fulgent Genetics, Fulgent Genetics RCV005036061 SCV005660494 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-05-28 criteria provided, single submitter clinical testing

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