ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser)

gnomAD frequency: 0.00014  dbSNP: rs141708467
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643846 SCV000765533 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508485 SCV001714670 uncertain significance not provided 2019-09-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798944 SCV002043113 uncertain significance Cardiomyopathy 2021-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271543 SCV002556179 uncertain significance not specified 2022-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386072 SCV002694205 uncertain significance Cardiovascular phenotype 2020-01-07 criteria provided, single submitter clinical testing The p.R3219S variant (also known as c.9657A>C), located in coding exon 40 of the TTN gene, results from an A to C substitution at nucleotide position 9657. The arginine at codon 3219 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002477427 SCV002775101 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 2021-10-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001508485 SCV003823009 uncertain significance not provided 2020-09-21 criteria provided, single submitter clinical testing

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