ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2974-3T>C

dbSNP: rs778558788
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318559 SCV001509266 uncertain significance Developmental and epileptic encephalopathy 94 2020-04-27 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CHD2-related conditions. This variant is present in population databases (rs778558788, ExAC 0.006%). This sequence change falls in intron 23 of the CHD2 gene. It does not directly change the encoded amino acid sequence of the CHD2 protein, but it affects a nucleotide within the consensus splice site of the intron.
Ambry Genetics RCV004034941 SCV004924874 uncertain significance Inborn genetic diseases 2024-02-12 criteria provided, single submitter clinical testing The c.2974-3T>C intronic alteration consists of a T to C substitution 3 nucleotides before exon 24 (coding exon 23) of the CHD2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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