ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10977G>A (p.Ala3659=)

gnomAD frequency: 0.00020  dbSNP: rs369327691
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Total submissions: 4
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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 RCV000600665 SCV000710968 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala3488Ala in exon 44B of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.04% (10/25726) of Finnish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs369327691). ACMG/AMP Criteria applied: BS1, BP4, BP 7(Richards 2015).
Invitae RCV002532713 SCV001001639 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-04-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000861349 SCV001153151 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002476348 SCV002798906 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-13 criteria provided, single submitter clinical testing

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