ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) (rs201728165)

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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 RCV000154984 SCV000204666 likely benign not specified 2014-08-22 criteria provided, single submitter clinical testing Ala5671Ser in exon 68 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, 4 mammals (Tibetan antelope, cow, sheep and domestic goat) and 2 fish (stickl eback and atlantic cod) have a serine (Ser) at this position despite high nearby amino acid conservation. In addition, this variant has been identified in 0.2% (6/3820) of African American chromosomes by the NHLBI Exome Sequencing Project (; dbSNP rs201728165).
Genetic Services Laboratory, University of Chicago RCV000154984 SCV000249239 uncertain significance not specified 2014-04-29 criteria provided, single submitter clinical testing
Invitae RCV001085049 SCV000542377 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000154984 SCV000729582 likely benign not specified 2018-02-07 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 RCV000730570 SCV000858318 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing

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