ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.329A>G (p.Asn110Ser) (rs727505027)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156453 SCV000206172 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Asn100Ser v ariant in TNNT2 has not been previously reported in individuals with cardiomyopa thy or in large population studies. This variant was predicted to be pathogenic using a computational tool clinically validated by our laboratory. This tool's p athogenic prediction is estimated to be correct 94% of the time (Jordan 2011). I n addition, splicing prediction tools suggest this variant may lead to the creat ion of a novel splice site which could result in altered splicing, however this information is not predictive enough to determine pathogenicity. In summary, whi le these data suggest this variant may be disease-causing, additional informatio n is needed to fully assess the clinical significance of the Asn100Ser variant.

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