ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.1281C>T (p.Ser427=) (rs6489957)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250546 SCV000302910 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349378 SCV000376497 benign Holt-Oram syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000590823 SCV000562258 benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590823 SCV000695949 benign not provided 2017-02-13 criteria provided, single submitter clinical testing Variant summary: The c.1281C>T (p.Ser427=) in TBX5 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.00545 (652/119626 chrs tested), predominantly in individuals of African origin (0.06092; 612/ 10046 chrs), including 17 homozygotes. The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant in this gene (0.0000013), suggesting that it is a benign polymorphism. The variant of interest has been cited as Benign by several reputable databases/clinical laboratories. Taking together, the variant was classified as Benign.
Ambry Genetics RCV000621807 SCV000735159 benign Cardiovascular phenotype 2015-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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