ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu) (rs199726308)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467896 SCV000542670 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000605477 SCV000714532 likely benign not specified 2018-03-01 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.
Ambry Genetics RCV000620057 SCV000735822 likely benign Cardiovascular phenotype 2020-07-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient evidence;Subpopulation frequency in support of benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768914 SCV000900287 uncertain significance Cardiomyopathy 2016-06-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000605477 SCV001432111 uncertain significance not specified 2020-08-17 criteria provided, single submitter clinical testing Variant summary: TTN c.73823G>T (p.Arg24608Leu) results in a non-conservative amino acid change located in the A-band of the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00012 in 248196 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in TTN causing Dilated Cardiomyopathy (0.00012 vs 0.00039), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.73823G>T in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign n=1, VUS n=3). Based on the evidence outlined above, the variant was classified as uncertain significance.

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