ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu)

gnomAD frequency: 0.00004  dbSNP: rs375549179
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465695 SCV000542343 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798819 SCV002043046 uncertain significance Cardiomyopathy 2021-05-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481371 SCV002779985 uncertain significance 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 2021-07-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139602 SCV003826590 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing
GeneDx RCV003139602 SCV003935621 uncertain significance not provided 2022-12-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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; Located in a region of TTN within the I-band in which the majority of loss of function variants are significantly associated with autosomal dominant titinopathies (Deo et al., 2016; Schafer et al., 2017); This variant is associated with the following publications: (PMID: 23975875)

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