ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2203T>C (p.Tyr735His)

gnomAD frequency: 0.00001  dbSNP: rs754432983
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000354852 SCV000338443 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing
Invitae RCV000643469 SCV000765156 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192480 SCV001360625 uncertain significance not specified 2019-11-05 criteria provided, single submitter clinical testing Variant summary: TTN c.2203T>C (p.Tyr735His) results in a conservative amino acid change located in the Z-disk region 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 2e-05 in 250954 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.2203T>C in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV002418118 SCV002724868 uncertain significance Cardiovascular phenotype 2020-02-21 criteria provided, single submitter clinical testing The p.Y689H variant (also known as c.2065T>C), located in coding exon 12 of the TTN gene, results from a T to C substitution at nucleotide position 2065. The tyrosine at codon 689 is replaced by histidine, an amino acid with similar properties. This amino acid position is 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 alteration remains unclear.
Revvity Omics, Revvity RCV000354852 SCV003821232 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing

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