ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5233_5236del (p.Ser1745fs)

dbSNP: rs2054569319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062067 SCV001226839 uncertain significance Developmental and epileptic encephalopathy 94 2022-02-03 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 856575). This premature translational stop signal has been observed in individual(s) with clinical features of CHD2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1745Ilefs*68) in the CHD2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 84 amino acid(s) of the CHD2 protein.

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