ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr)

gnomAD frequency: 0.00008  dbSNP: rs397517829
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041088 SCV000064779 uncertain significance not specified 2012-09-24 criteria provided, single submitter clinical testing The Ala3823Thr variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stron g support for or against an impact to the protein. Additional information is nee ded to fully assess the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000476484 SCV000543066 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-12 criteria provided, single submitter clinical testing
GeneDx RCV000041088 SCV000727275 likely benign not specified 2018-01-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000727750 SCV000855128 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727750 SCV001153103 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing TTN: BP4, BS2
Ambry Genetics RCV002453334 SCV002739476 uncertain significance Cardiovascular phenotype 2019-11-08 criteria provided, single submitter clinical testing The p.A3698T variant (also known as c.11092G>A), located in coding exon 44 of the TTN gene, results from a G to A substitution at nucleotide position 11092. The alanine at codon 3698 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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.

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