ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys)

gnomAD frequency: 0.00003  dbSNP: rs371249764
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Total submissions: 3
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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 RCV000155008 SCV000204690 uncertain significance not specified 2013-07-25 criteria provided, single submitter clinical testing The Ser3228Cys variant in TTN has been observed in one individual with dilated cardiomyopathy tested by our laboratory, and has been identified in 1/8600 Europ ean American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS/). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ser3228Cys varian t may impact the normal function of the TTN protein, though this information is not predictive enough to determine pathogenicity. Additional information is nee ded to fully assess the clinical significance of the Ser3228Cys variant.
Fulgent Genetics, Fulgent Genetics RCV000765586 SCV000896901 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 2018-10-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486697 SCV004240223 likely benign Cardiomyopathy 2023-05-16 criteria provided, single submitter clinical testing

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