ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97436G>A (p.Arg32479His) (rs369845358)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721151 SCV000236799 likely benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247768 SCV000320009 likely benign Cardiovascular phenotype 2019-10-08 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000184179 SCV001519584 uncertain significance not specified 2021-03-01 criteria provided, single submitter clinical testing Variant summary: TTN c.89732G>A (p.Arg29911His) results in a non-conservative amino acid change located in the A-band of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 246924 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.89732G>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely benign, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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