ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1])

dbSNP: rs747665912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714797 SCV000845530 uncertain significance CHARGE association 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000714797 SCV002315039 uncertain significance CHARGE association 2023-04-18 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: 587576). This variant has not been reported in the literature in individuals affected with CHD7-related conditions. This variant is present in population databases (rs747665912, gnomAD 0.002%). This variant, c.8287_8295del, results in the deletion of 3 amino acid(s) of the CHD7 protein (p.Asn2763_Gln2765del), but otherwise preserves the integrity of the reading frame.

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