ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr)

gnomAD frequency: 0.00001  dbSNP: rs370728359
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600197 SCV000710971 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing p.Ala743Thr in exon 14 of TTN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including >10 mammals. I n addition, computational prediction tools do not suggest a high likelihood of i mpact to the protein. This variant has identified in 2/126354 European chromoso mes by the Genome Aggregation Database (gnomAD; http://gnomad.broadinstitute.org /; dbSNP rs370728359).
Revvity Omics, Revvity RCV003488406 SCV004237427 uncertain significance not provided 2023-05-23 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157551 SCV000207297 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-04-17 no assertion criteria provided clinical testing

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