ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) (rs148018042)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184587 SCV000237256 likely benign not specified 2017-10-03 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.
Invitae RCV000471332 SCV000542324 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993449 SCV001146423 uncertain significance not provided 2018-11-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000184587 SCV001572536 uncertain significance not specified 2021-04-15 criteria provided, single submitter clinical testing Variant summary: TTN c.42508G>A (p.Glu14170Lys) results in a conservative amino acid change located in the A-Band domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00015 in 279068 control chromosomes in the gnomAD database, including 1 homozygote. This frequency is not significantly higher than expected for a pathogenic variant in TTN causing Dilated Cardiomyopathy (0.00015 vs 0.00039), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.42508G>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=2) and likely benign (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.

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