ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) (rs148140756)

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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 RCV000172670 SCV000055011 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172670 SCV000345128 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000152359 SCV000237135 likely benign not specified 2018-03-01 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 RCV000475741 SCV000555245 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152359 SCV000201278 likely benign not specified 2014-04-17 criteria provided, single submitter clinical testing p.Ala10796Val in exon 163 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, >40 species including primates, rats and mice have a valine (Val) at this position despite high nearby amino acid conservation. The Ala10796Val variant a lso been identified in 0.21% (17/8192) of European American chromosomes by the N HLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs148140 756).

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