ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala)

gnomAD frequency: 0.00003  dbSNP: rs576759867
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591641 SCV000706812 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193165 SCV001361843 uncertain significance not specified 2019-11-25 criteria provided, single submitter clinical testing Variant summary: TTN c.91832T>C (p.Val30611Ala) results in a non-conservative amino acid change located in the A-band 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 6.4e-05 in 248956 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in TTN causing Cardiomyopathy (6.4e-05 vs 0.00063), allowing no conclusion about variant significance. c.91832T>C has been reported in the literature in an individual affected with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). The patient also carried two DSG2 variants, c.217-1G>T and p.F531C. Authors suggest that the F531C variant is the main reason for the ARVC/D with more severe phenotypes being presented due to the co-occurrence with the DSG2 splice variant (Lin_2018). A ClinVar submission (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV000591641 SCV002102708 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing

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