ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala)

gnomAD frequency: 0.00001  dbSNP: rs886039085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249351 SCV000319995 uncertain significance Cardiovascular phenotype 2015-08-14 criteria provided, single submitter clinical testing The p.V11024A variant (also known as c.33071T>C), located in coding exon 131 of the TTN gene, results from a T to C substitution at nucleotide position 33071. The valine at codon 11024 is replaced by alanine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6032 samples (12064 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Eurofins Ntd Llc (ga) RCV000265660 SCV000334322 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001255533 SCV001431992 uncertain significance not specified 2020-08-10 criteria provided, single submitter clinical testing Variant summary: TTN c.52562T>C (p.Val17521Ala) 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 1.8e-05 in 227726 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.52562T>C has been reported in the literature in an individual affected with Hypertrophic Cardiomyopathy and an infant that died suddenly (Campuzano_2015, 2018). These reports 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 ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002503963 SCV002817015 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 2021-10-01 criteria provided, single submitter clinical testing

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