ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln) (rs375652574)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154989 SCV000204671 uncertain significance not specified 2013-04-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Lys5016Gln vari ant in TTN has not been reported in individuals with cardiomyopathy, but has bee n identified in 2/8278 European American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/). Lysine (Lys) at position 5016 is not conserved in mammals, suggesting that a change at this position would be to lerated. Additional computational analyses (biochemical amino acid properties, A lignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an i mpact to the protein. Although the lack of segregation supports that the Lys5016 Gln variant may be benign, additional studies are needed to fully assess its cli nical significance.
GeneDx RCV000836064 SCV000977891 likely benign not provided 2018-03-21 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.

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