ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36568A>G (p.Lys12190Glu)

gnomAD frequency: 0.00001  dbSNP: rs749339946
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468579 SCV000542478 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884545 SCV004702610 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing TTN: PM2, BP4
Breakthrough Genomics, Breakthrough Genomics RCV003884545 SCV005188147 uncertain significance not provided criteria provided, single submitter not provided
GeneDx RCV003884545 SCV005906578 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23975875)

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