ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91326A>G (p.Lys30442=)

gnomAD frequency: 0.00002  dbSNP: rs367777281
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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 RCV000222956 SCV000271104 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Lys27874Lys in Exon 285 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. It has been identified in 0.1% (2/3216) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
Labcorp Genetics (formerly Invitae), Labcorp RCV002054957 SCV002419633 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-27 criteria provided, single submitter clinical testing

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