ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1867G>C (p.Gly623Arg)

gnomAD frequency: 0.00002  dbSNP: rs375905260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728091 SCV000855624 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV001062397 SCV001227194 uncertain significance CHARGE association 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 623 of the CHD7 protein (p.Gly623Arg). This variant is present in population databases (rs375905260, gnomAD 0.008%). 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: 593135). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHD7 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002533082 SCV003745356 likely benign Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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