ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7316G>A (p.Arg2439His) (rs142129359)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000997593 SCV000238031 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216418 SCV000271085 likely benign not specified 2015-08-24 criteria provided, single submitter clinical testing p.Arg2439His in exon 31 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, 5 mammals (Chinese hamster, golden hamster, naked mole-rat, cape golden mol e and dolphin) have a histidine (His) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has been identified in 2/10172 Af rican and 9/65986 European chromosomes by the Exome Aggregation Consortium (ExAC ,; dbSNP rs142129359).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997593 SCV001153172 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing

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