ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) (rs201423234)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176941 SCV000228720 uncertain significance not provided 2015-02-03 criteria provided, single submitter clinical testing
Invitae RCV000700201 SCV000828948 uncertain significance CHARGE association 2020-02-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1950 of the CHD7 protein (p.Ala1950Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs201423234, ExAC 0.05%), including at least one homozygous individual. This variant has been reported in individuals undergoing CHD7 screening (PMID: 21158681, 28475860) and in an individual with atrioventricular septal defect (PMID: 25996639). ClinVar contains an entry for this variant (Variation ID: 196181). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0). 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 RCV000717065 SCV000847911 likely benign History of neurodevelopmental disorder 2017-01-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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