ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile)

gnomAD frequency: 0.00001  dbSNP: rs727504878
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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 RCV000156247 SCV000205963 likely benign not specified 2013-12-26 criteria provided, single submitter clinical testing Val13226Ile in exon 202 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, more than 10 mammals have an isoleucine (Ile) at this position despite high nearby amino acid conservation. In addition, computational analyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impact to the protein.
Invitae RCV000642984 SCV000764671 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-10 criteria provided, single submitter clinical testing

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