ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln)

dbSNP: rs181395238
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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, Mass General Brigham Personalized Medicine RCV000152373 SCV000201308 likely benign not specified 2014-03-14 criteria provided, single submitter clinical testing Arg9741Gln in exon 132 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, multiple mammals have a glutamine (Gln) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not sug gest a high likelihood of impact to the protein.
Revvity Omics, Revvity RCV003137658 SCV003824835 uncertain significance not provided 2021-12-16 criteria provided, single submitter clinical testing

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