ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys)

dbSNP: rs750298083
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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) RCV000732912 SCV000860911 uncertain significance not provided 2018-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000732912 SCV001825946 likely benign not provided 2018-09-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469280 SCV002766508 uncertain significance not specified 2022-11-14 criteria provided, single submitter clinical testing Variant summary: TTN c.65012T>A (p.Met21671Lys) results in a non-conservative amino acid change located in the A-band region 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 4.5e-05 in 175928 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.65012T>A has been reported in the literature in at least one individual affected with Cardiomyopathy without strong evidence of causality (Campuzano_2015, Martinez-Barrios_2022). These reports 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. 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.
Revvity Omics, Revvity RCV000732912 SCV003818518 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing

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