ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1326C>A (p.Ala442=)

gnomAD frequency: 0.00014  dbSNP: rs370097651
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589149 SCV000699432 benign not provided 2016-10-24 criteria provided, single submitter clinical testing Variant summary: The CHD7 c.1326C>A (p.Ala442Ala) variant causes a synonymous change involving a conserved nucleotide with 5/5 splice prediction tools predict no significant impact on normal splicing or alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 20/120690 (1/60350), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic CHD7 variant of 1/769230. Therefore, suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic. Taking all available lines of evidence into consideration, the variant of interest has been classified as Benign.
Invitae RCV001084059 SCV001009704 likely benign CHARGE association 2021-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000589149 SCV001759327 likely benign not provided 2021-09-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001821714 SCV002066615 uncertain significance not specified 2017-08-04 criteria provided, single submitter clinical testing

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