ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)

gnomAD frequency: 0.00002  dbSNP: rs536494011
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724793 SCV000227989 uncertain significance not provided 2015-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000724793 SCV000582235 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing The R15986H variant is observed in 8/66696 (0.01%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, the majority of disease associated pathogenic variants in the TTN gene are loss of function and result from truncating variants.
Labcorp Genetics (formerly Invitae), Labcorp RCV000539172 SCV000643329 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478576 SCV002788410 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 2021-10-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000724793 SCV003825592 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing

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