ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.827G>A (p.Ser276Asn) (rs147977741)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619065 SCV000738177 likely benign Cardiovascular phenotype 2017-12-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Integrated Genetics/Laboratory Corporation of America RCV000589261 SCV000695951 benign not provided 2016-03-22 criteria provided, single submitter clinical testing Variant summary: The TBX5 c.827G>A variant affects a conserved nucleotide, resulting in an amino acid change from Ser to Asn. 3/3 in-silico tools predict a benign outcome for this variant (SNPs&GO and Mutation Taster were not captured due to low reliability index/p-value). This variant was found in 50/121398 control chromosomes at a frequency of 0.0004119, which is about 329 times the maximal expected frequency of a pathogenic TBX5 allele (0.0000013), highly suggesting this variant is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via peer reviewed publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as benign.

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