ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21545G>A (p.Arg7182Gln) (rs200447686)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000615684 SCV000713728 likely benign not specified 2017-10-12 criteria provided, single submitter clinical testing p.Arg5938Gln in exon 71 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species. Of note, several mammal s, including 4 primate species, have a Glutamine (Gln) at this position. In addi tion, computational prediction tools do not suggest a high likelihood of impact to the protein. It has also been identified in 15/276282 chromosomes by the Geno me Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs20044 7686).
GeneDx RCV000827561 SCV000969214 likely benign not provided 2018-05-24 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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