ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)

gnomAD frequency: 0.00001  dbSNP: rs397517690
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Total submissions: 7
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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 RCV000040573 SCV000064264 uncertain significance not specified 2012-11-20 criteria provided, single submitter clinical testing The Val21393Ile variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in larg e and broad European American and African American populations by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/), though it remains poss ible that this variant is common in other populations. Valine (Val) is not conse rved at position 21393, as wallaby has an isoleucine (Ile; this variant) at this position. Additional computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the cli nical significance of this variant.
GeneDx RCV000725281 SCV000237502 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725281 SCV000335647 uncertain significance not provided 2015-10-07 criteria provided, single submitter clinical testing
Invitae RCV001088776 SCV001083801 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-11 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293079 SCV001434062 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000725281 SCV002563625 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing TTN: BP4
Ambry Genetics RCV002326757 SCV002636013 likely benign Cardiovascular phenotype 2019-12-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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