ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67781A>T (p.Asp22594Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137380 SCV003821098 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235783 SCV003934146 uncertain significance not specified 2023-05-08 criteria provided, single submitter clinical testing Variant summary: TTN c.60077A>T (p.Asp20026Val) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Three of four 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 248618 control chromosomes, predominantly at a frequency of 0.00039 within the African or African-American subpopulation in the gnomAD database. 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.60077A>T 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 a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences RCV004736315 SCV005347524 uncertain significance TTN-related disorder 2024-07-09 no assertion criteria provided clinical testing The TTN c.67781A>T variant is predicted to result in the amino acid substitution p.Asp22594Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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