ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys)

gnomAD frequency: 0.00004  dbSNP: rs55915651
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Total submissions: 6
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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 RCV000223489 SCV000272814 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing The p.Glu29898Lys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 5/8266 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs55915651). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Glu29898Lys variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000462887 SCV000542589 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-29 criteria provided, single submitter clinical testing
GeneDx RCV001571378 SCV001795839 likely benign not provided 2018-06-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798710 SCV002043082 likely benign Cardiomyopathy 2020-09-04 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000223489 SCV006065233 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734871 SCV005349152 uncertain significance TTN-related disorder 2024-09-06 no assertion criteria provided clinical testing The TTN c.97396G>A variant is predicted to result in the amino acid substitution p.Glu32466Lys. To our knowledge, this variant has not been reported in individuals with TTN-associated disorders in the literature. This variant is reported in 0.062% of alleles in individuals of East Asian descent in gnomAD, including 1 homozygote. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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