ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser)

dbSNP: rs727503635
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Total submissions: 2
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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 RCV000152374 SCV000201316 likely benign not specified 2018-03-22 criteria provided, single submitter clinical testing p.Ala9595Ser in exon 127 of TTN: This variant classified as likely benign becaus e computational prediction tools and conservation analysis do not predict an imp act on the protein. In addition, the majority of pathogenic variants reported in the TTN gene are loss-of-function variants located in the A-band or in other hi ghly expressed exons. This is a missense variant located in the I-band, in an ex on that is not highly expressed in the heart. It has also been identified in 1/1 07056 European chromosomes by the Genome Aggregation Database (gnomAD, http://gn omad.broadinstitute.org; dbSNP rs727503635); however, coverage of this region wa s poor. ACMG/AMP Criteria applied: BP1; BP4.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152374 SCV002555696 uncertain significance not specified 2022-06-06 criteria provided, single submitter clinical testing

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