ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98203A>G (p.Ile32735Val)

gnomAD frequency: 0.00009  dbSNP: rs761246331
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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 RCV000218208 SCV000271114 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing p.Ile30167Val in exon 301 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 4 mammals (mouse, elephant, cape elephant shrew and manatee) have a valin e (Val) at this position despite high nearby amino acid conservation. In additio n, computational prediction tools do not suggest a high likelihood of impact to the protein. It has been identified in 2/11534 of Latino chromosomes and 1/9804 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org).
Revvity Omics, Revvity RCV003137807 SCV003819179 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing

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