ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) (rs147207100)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040730 SCV000064421 likely benign not specified 2012-02-09 criteria provided, single submitter clinical testing Arg2654Lys in exon 34 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 (rat, mouse, dog, megabat, and opossum) have a Lys at this po sition despite high nearby amino acid conservation. In addition, computational a nalyses (SIFT, AlignGVGD) do not suggest a high likelihood of impact to the prot ein. Furthermore, the Arg2654Lys has been identified in 0.1% (5/3738) of African American chromosomes from a broad population (NHLBI Exome Sequencing Project; h ttp://evs.gs.washington.edu/EVS, dbSNP rs147207100).
GeneDx RCV000040730 SCV000238040 likely benign not specified 2017-08-10 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 RCV000459253 SCV000555220 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040730 SCV000701209 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201420 SCV000240003 benign Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing

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