ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) (rs200193877)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154900 SCV000204582 likely benign not specified 2013-08-02 criteria provided, single submitter clinical testing Ile27090Val in exon 282 of TTN: This variant is not expected to have clinical si gnificance due to a lack of evolutionary conservation. Multiple mammals have a v aline (Val) at this position despite high nearby amino acid conservation. This v ariant has also been identified in 4/8298 European American chromosomes by the N HLBI Exome Sequencing Project (; dbSNP rs200193 877).
GeneDx RCV000710279 SCV000237712 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362, 26395554)
Invitae RCV000230724 SCV000286897 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710279 SCV000616168 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710279 SCV000703188 uncertain significance not provided 2017-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621138 SCV000735542 likely benign Cardiovascular phenotype 2018-01-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710279 SCV001502340 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154900 SCV001774760 uncertain significance not specified 2021-07-12 criteria provided, single submitter clinical testing Variant summary: TTN c.81268A>G (p.Ile27090Val) results in a conservative amino acid change located in the A-band ( of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00017 in 247560 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in TTN causing Dilated Cardiomyopathy (0.00017 vs 0.00039), allowing no conclusion about variant significance. c.81268A>G has been reported in the literature in an individual affected with malformation of cortical development (MCD; Zillhardt_2016). This report however, does 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. Six ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=4) or likely benign (n=2). Based on the evidence outlined above, the variant was classified as uncertain significance.
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201380 SCV000239996 benign Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing

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