ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) (rs376934539)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177945 SCV000229908 uncertain significance not provided 2014-07-07 criteria provided, single submitter clinical testing
Invitae RCV000796515 SCV000936033 uncertain significance CHARGE association 2019-08-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2789 of the CHD7 protein (p.Ala2789Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs376934539, ExAC 0.08%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in an individual affected with Kallman syndrome (PMID: 23533228). ClinVar contains an entry for this variant (Variation ID: 197037). Experimental studies in a zebrafish model have shown that this missense change does not alter CHD7 function compared to wild type (PMID: 25472840). 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.

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