ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser)

gnomAD frequency: 0.00004  dbSNP: rs377296133
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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 RCV000155006 SCV000204688 likely benign not specified 2014-07-10 criteria provided, single submitter clinical testing Phe3517Ser in exon 44B 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, >30 mammals have a serine (Ser) at this position despite high nearby amino a cid conservation. In addition, computational prediction tools do not suggest a h igh likelihood of impact to the protein. It has also been identified in 1/8226 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs. gs.washington.edu/EVS/; dbSNP rs377296133).
CeGaT Center for Human Genetics Tuebingen RCV002056069 SCV002496618 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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