ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)

gnomAD frequency: 0.00029  dbSNP: rs375204371
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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 RCV000154919 SCV000204601 uncertain significance not specified 2015-05-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser22600Arg v ariant in TTN has not been reported in any other families with DCM, but has been identified in 0.1% (12/9798) of African chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375204371). Computationa l prediction tools and conservation analysis do not provide strong support for o r against an impact to the protein. In summary, while the clinical significance of the p.Ser22600Arg variant is uncertain, its frequency suggests that it is mor e likely to be benign.
Eurofins Ntd Llc (ga) RCV000725368 SCV000336408 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000725368 SCV000714407 likely benign not provided 2018-07-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768927 SCV000900300 uncertain significance Cardiomyopathy 2016-10-12 criteria provided, single submitter clinical testing
Invitae RCV001087044 SCV001006527 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336328 SCV002635091 likely benign Cardiovascular phenotype 2019-09-03 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 RCV000725368 SCV003824217 likely benign not provided 2023-05-26 criteria provided, single submitter clinical testing

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