ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)

gnomAD frequency: 0.00010  dbSNP: rs796478043
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725270 SCV000335513 uncertain significance not provided 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000458463 SCV000542348 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000263993 SCV000714323 likely benign not specified 2017-11-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000263993 SCV004029891 uncertain significance not specified 2024-09-05 criteria provided, single submitter clinical testing Variant summary: TTN c.31491A>T (p.Glu10497Asp) results in a conservative amino acid change located in the I-band of the encoded protein sequence. Three of three in-silico tools predict a benign effect of the variant on protein function. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position.c.31491A>T has been reported in the literature in individuals affected with hypertrophic cardiomyopathy or sudden unexplained death without evidence of causality (examples: Lopes_2013, Campuzano_2015). These report(s) do not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 26516846, 23396983). ClinVar contains an entry for this variant (Variation ID: 283437). Based on the evidence outlined above, the variant was classified as uncertain significance.

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