ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54874G>C (p.Gly18292Arg) (rs377512675)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172310 SCV000051255 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152304 SCV000201173 uncertain significance not specified 2013-09-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly15724Arg var iant in TTN has not been reported in individuals with cardiomyopathy but has bee n identified in 1/8178 European American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs377512675). Glycine (Gly) at position 15724 is not conserved across mammals and suggests that a change at this position may be tolerated despite high adjacent conservation. Additionally , computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen 2, and SIFT) do not provide strong support for or against an impact to the norma l function of the protein. In summary, additional information is needed to fully assess the clinical significance of the Gly15724Arg variant.
GeneDx RCV000152304 SCV000725620 likely benign not specified 2017-12-05 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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