ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala)

dbSNP: rs1554604771
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634453 SCV000755762 likely benign CHARGE association 2024-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825057 SCV000966270 benign not specified 2018-07-27 criteria provided, single submitter clinical testing The c.6989_6990delinsCT variant in CHD7 is classified as benign because it had b een identified in 0.26% (61/23434) of African chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; d bSNP rs77704609 and rs559382275). ACMG/AMP Criteria applied: BA1.
GeneDx RCV001709676 SCV001937628 benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360536 SCV002665329 uncertain significance Inborn genetic diseases 2018-01-24 criteria provided, single submitter clinical testing The c.6989_6990delGCinsCT variant (also known as p.G2330A), located in coding exon 32 of the CHD7 gene, results from an in-frame deletion of GC and insertion of CT at nucleotide positions 6989 to 6990. This results in the substitution of the glycine residue for an alanine residue at codon 2330, an amino acid with similar properties. In one study, c.6989G>C (p.G2330A) was reported as a rare missense variation of unknown pathogenicity identified in a cohort of samples submitted for CHD7 analysis (Bartels CF et al. Genet Test Mol Biomarkers, 2010 Dec;14:881-91). In another study, c.6989G>C (p.G2330A) was classified as a benign CHD7 missense variant present in two or more controls and/or found in the homozygous state; however, more specific information was not provided (Bergman JE et al. Hum. Mutat., 2012 Aug;33:1251-60). This amino acid position is highly conserved in available vertebrate species. Based on available evidence to date, the clinical significance of this alteration remains unclear.

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