ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del)

dbSNP: rs754571796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001293494 SCV001482077 uncertain significance not specified 2021-02-08 criteria provided, single submitter clinical testing Variant summary: TTN c.70117_70119delGTT (p.Val23373del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 1.6e-05 in 248558 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.70117_70119delGTT in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV002339717 SCV002643583 uncertain significance Cardiovascular phenotype 2020-09-01 criteria provided, single submitter clinical testing The c.50626_50628delGTT variant (also known as p.V16876del) is located in coding exon 153 of the TTN gene. This variant results from an in-frame GTT deletion at nucleotide positions 50626 to 50628. This results in the in-frame deletion of a valine at codon 16876. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002486104 SCV002797041 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2022-02-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003135918 SCV003826011 uncertain significance not provided 2019-12-17 criteria provided, single submitter clinical testing

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