ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216418 SCV000238031 likely benign not specified 2017-08-11 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.
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 , http://exac.broadinstitute.org; dbSNP rs142129359).

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