ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)

dbSNP: rs886042743
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000714050 SCV000336314 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV000474114 SCV000542556 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000714050 SCV000732422 uncertain significance not provided 2021-06-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function
Athena Diagnostics Inc RCV000714050 SCV000844715 uncertain significance not provided 2019-01-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170608 SCV001333197 likely benign Cardiomyopathy 2023-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450807 SCV002739380 benign Cardiovascular phenotype 2022-04-15 criteria provided, single submitter clinical testing This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics RCV002494837 SCV002781474 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-15 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003401244 SCV004121179 uncertain significance TTN-related condition 2023-04-25 criteria provided, single submitter clinical testing The TTN c.53122_53123delinsGT variant is predicted to result in an in-frame deletion and insertion. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. Of note, at PreventionGenetics we have observed the c.53122_53123delinsGT and c.21548G>A variants in three other presumably unrelated patients with neuromuscular features. Familial testing indicated these variants are on the same allele. (cis phase).
Mayo Clinic Laboratories, Mayo Clinic RCV000714050 SCV004225861 uncertain significance not provided 2023-05-22 criteria provided, single submitter clinical testing PM2

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