ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)

gnomAD frequency: 0.00020  dbSNP: rs200430493
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Total submissions: 5
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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 RCV000154874 SCV000204556 likely benign not specified 2014-10-24 criteria provided, single submitter clinical testing p.Val31606Ile in exon 307 of TTN: This variant is not expected to have clinical significance due to a lack of evolutionary conservation. Of note, 4 mammals (gib bon, opossum, Tasmanian devil, and platypus) as well as several reptiles and fro g have an isoleucine (Ile) at this position despite high nearby amino acid conse rvation. It has also been identified in 1/8290 European American chromosomes and in 3/3904 African American chromosomes by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs200430493).
Genetic Services Laboratory,University of Chicago RCV000154874 SCV000249291 uncertain significance not specified 2014-10-31 criteria provided, single submitter clinical testing
Invitae RCV000554691 SCV000642519 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-16 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000732023 SCV000859899 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000732023 SCV000978109 likely benign not provided 2021-05-17 criteria provided, single submitter clinical testing

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