ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg)

gnomAD frequency: 0.00001  dbSNP: rs373124679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245566 SCV001418862 uncertain significance CHARGE association 2023-12-25 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 2752 of the CHD7 protein (p.Gly2752Arg). This variant is present in population databases (rs373124679, gnomAD 0.005%). 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: 970067). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CHD7 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002491827 SCV002775435 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-08-18 criteria provided, single submitter clinical testing

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