ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1554G>T (p.Gln518His)

dbSNP: rs369284507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001322918 SCV001513809 uncertain significance CHARGE association 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 518 of the CHD7 protein (p.Gln518His). This variant is present in population databases (rs369284507, gnomAD 0.007%). 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: 1022947). 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.
Baylor Genetics RCV001322918 SCV001527958 uncertain significance CHARGE association 2018-04-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001558538 SCV001780505 likely benign not provided 2021-07-27 criteria provided, single submitter clinical testing

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