ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala)

gnomAD frequency: 0.00001  dbSNP: rs775053902
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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) RCV000364710 SCV000334072 uncertain significance not provided 2015-08-14 criteria provided, single submitter clinical testing
Invitae RCV000553677 SCV000643725 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001375548 SCV001572416 uncertain significance not specified 2021-04-08 criteria provided, single submitter clinical testing Variant summary: TTN c.71932A>G (p.Thr23978Ala) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 248370 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.71932A>G has been reported in the literature in at-least one individual affected with Dilated Cardiomyopathy (example, Mazzarotto_2020). These report(s) 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. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Athena Diagnostics Inc RCV000364710 SCV001879703 uncertain significance not provided 2020-11-06 criteria provided, single submitter clinical testing

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