ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr)

dbSNP: rs1804159058
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225953 SCV001398247 uncertain significance CHARGE association 2023-10-03 criteria provided, single submitter clinical testing This variant, c.3372_3373delinsAT, is a complex sequence change that results in the deletion of methionine aspartic acid and insertion of isoleucine amino acid(s) in the CHD7 protein (p.Met1124_Asp1125delinsIleTyr). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with CHD7-related conditions. ClinVar contains an entry for this variant (Variation ID: 953632). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001225953 SCV002012502 uncertain significance CHARGE association 2021-10-13 criteria provided, single submitter research ACMG codes: PM2; PP3
GeneDx RCV003129742 SCV003805974 uncertain significance not provided 2023-01-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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