ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) (rs79203206)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250064 SCV000312983 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000250064 SCV000334090 benign not specified 2015-08-12 criteria provided, single submitter clinical testing
Invitae RCV001081752 SCV000631264 benign CHARGE association 2020-11-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588099 SCV000699437 benign not provided 2016-06-27 criteria provided, single submitter clinical testing Variant summary: The CHD7 c.5757C>G (p.Ala1919Ala) 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, and 3/5 splicing algorithms predict no significant change to normal splicing. This variant was found in 42/119590 control chromosomes at a frequency of 0.0003512, 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. One clinical lab has classified this variant as benign, and it had been reported in at least one CHARGE syndrome patient, but considered to be benign (Janssen_HM_2012). Taken together, given the synonymous nature of this variant and the high allele frequency on the general population, this variant was classified as benign.
Ambry Genetics RCV000717082 SCV000847928 likely benign History of neurodevelopmental disorder 2016-10-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000250064 SCV000967182 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ala1919Ala in exon 29 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 0.39% (38/9686) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro; dbSNP rs79203206).
GeneDx RCV000588099 SCV001902740 benign not provided 2020-06-21 criteria provided, single submitter clinical testing

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