ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)

gnomAD frequency: 0.00030  dbSNP: rs371945519
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Total submissions: 11
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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 RCV000152363 SCV000201285 likely benign not specified 2014-12-03 criteria provided, single submitter clinical testing p.Pro10585Pro in exon 156 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 3/3614 African Ame rican chromosomes by the NHLBI Exome sequencing project (http://evs.gs.washingto n.edu/EVS/; dbSNP rs371945519).
Labcorp Genetics (formerly Invitae), Labcorp RCV000227381 SCV000286630 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000152363 SCV000518231 benign not specified 2015-10-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000152363 SCV001880253 benign not specified 2020-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840092 SCV002101253 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840093 SCV002101254 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840094 SCV002101255 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840091 SCV002101256 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505156 SCV002812023 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 2021-09-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152363 SCV003928683 likely benign not specified 2023-04-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710555 SCV005259535 likely benign not provided criteria provided, single submitter not provided

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