ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) (rs201284459)

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Total submissions: 5
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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 RCV000172466 SCV000051230 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172466 SCV000228736 uncertain significance not provided 2014-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000040600 SCV000238024 likely benign not specified 2017-10-23 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.
Invitae RCV000467881 SCV000542584 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040600 SCV000064291 likely benign not specified 2012-02-16 criteria provided, single submitter clinical testing Thr2238Met in exon 29 of TTN: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including mammals. Of not e, several mammals and more distantly related species have a methionine (Met; th is variant) at this position despite high nearby amino acid conservation. In add ition, computational analyses (biochemical amino acid properties, AlignGVGD, and SIFT) do not suggest a high likelihood of impact to the protein.

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