ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)

gnomAD frequency: 0.00010  dbSNP: rs201506104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000041102 SCV000064793 likely benign not specified 2014-07-24 criteria provided, single submitter clinical testing Val4126Met in exon 45B of TTN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, >20 mammals have a methionine (Met) at this position despite high nearby ami no acid conservation. This variant has also been identified in 3/3706 African A merican chromosomes by the NHLBI Exome Sequencing Project (; dbSNP rs201506104).
Eurofins NTD LLC (GA) RCV000726435 SCV000344613 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing
GeneDx RCV000041102 SCV000722491 likely benign not specified 2017-08-24 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.

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