ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8949_8957del (p.Leu2984_Gly2986del)

dbSNP: rs2488155400
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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 RCV002730431 SCV003011733 uncertain significance CHARGE syndrome 2023-07-07 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: 1970230). This variant has not been reported in the literature in individuals affected with CHD7-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.8949_8957del, results in the deletion of 3 amino acid(s) of the CHD7 protein (p.Leu2984_Gly2986del), but otherwise preserves the integrity of the reading frame.
GeneDx RCV003228096 SCV003924848 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 3 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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