ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr) (rs1555445701)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541015 SCV000654347 uncertain significance Epileptic encephalopathy, childhood-onset 2018-09-24 criteria provided, single submitter clinical testing This sequence change deletes 7 nucleotides and inserts 1 nucleotide in exon 37 of the CHD2 gene(c.4900_4906delinsT). This is predicted to result in a deletion of 3 amino acid residues and insertion of 1 amino acid residue in the CHD2 protein (p.Asn1634_Asp1636delinsTyr) but otherwise preserves the integrity of the reading frame. This variant also affects the last nucleotide of exon 37 of the CHD2 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CHD2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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, but this prediction has not been confirmed by published transcriptional studies. 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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