ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2649C>T (p.Phe883=)

gnomAD frequency: 0.00001  dbSNP: rs775588479
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272754 SCV000333103 uncertain significance not provided 2015-07-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825844 SCV000967327 likely benign not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Phe883Phe variant in TTN is classified as likely benign because it does no t alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 4/245924 of chromosomes by gnomAD (http://gnomad.broad institute.org). ACMG/AMP Criteria applied: BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV001503592 SCV001708448 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429214 SCV002742518 likely benign Cardiovascular phenotype 2021-05-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000272754 SCV003824822 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing

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