ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) (rs61743849)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724311 SCV000229558 uncertain significance not provided 2014-12-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177656 SCV000594100 uncertain significance not specified 2016-07-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000177656 SCV000919209 benign not specified 2017-09-25 criteria provided, single submitter clinical testing Variant summary: The CHD7 c.6822T>C (p.Ala2274Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SC35. However, these predictions have yet to be confirmed by functional studies. This variant was found in 42/119700 control chromosomes at a frequency of 0.0003509, which is approximately 281 times the estimated maximal expected allele frequency of a pathogenic CHD7 variant (0.0000013), suggesting this variant is likely a benign polymorphism. Although multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance, this variant is classified as benign based on its frequency in controls.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000177656 SCV000967183 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ala2274Ala in exon 32 of CHD7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.10% (12/11440) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro; dbSNP rs61743849).
Invitae RCV001082670 SCV001000762 benign CHARGE association 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000724311 SCV001946041 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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