ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val)

gnomAD frequency: 0.00001  dbSNP: rs752107963
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210780 SCV001382285 uncertain significance CHARGE association 2023-01-14 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 941069). This variant has not been reported in the literature in individuals affected with CHD7-related conditions. This variant is present in population databases (rs752107963, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2069 of the CHD7 protein (p.Leu2069Val).
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375425 SCV001571954 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting

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