ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.899C>A (p.Thr300Asn)

gnomAD frequency: 0.00005  dbSNP: rs376737897
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643132 SCV000764819 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001532889 SCV001748674 uncertain significance not specified 2021-06-21 criteria provided, single submitter clinical testing Variant summary: TTN c.899C>A (p.Thr300Asn) results in a non-conservative amino acid change located in the Z-disk region (cardiodb.org) 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 3.6e-05 in 251192 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.899C>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001570946 SCV001795322 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001570946 SCV003819203 uncertain significance not provided 2023-03-29 criteria provided, single submitter clinical testing

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