ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) (rs183245562)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040259 SCV000063950 likely benign not specified 2013-02-25 criteria provided, single submitter clinical testing p.Val12599Ile in exon 195 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species. Multiple mammals hav e an isoleucine (Ile; this variant) at this position, despite high nearby amino acid conservation. Computational analyses (AlignGVGD, PolyPhen2, SIFT) do not su ggest a high likelihood of impact to the protein. This variant has also been ide ntified in 0.2% (8/3600) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs183245562).
GeneDx RCV000040259 SCV000237190 likely benign not specified 2017-11-30 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725531 SCV000337564 uncertain significance not provided 2015-11-12 criteria provided, single submitter clinical testing
Invitae RCV000725531 SCV000765408 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing

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