ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln)

gnomAD frequency: 0.00005  dbSNP: rs368885310
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618628 SCV000736053 uncertain significance Cardiovascular phenotype 2017-09-26 criteria provided, single submitter clinical testing The p.R966Q variant (also known as c.2897G>A), located in coding exon 16 of the TTN gene, results from a G to A substitution at nucleotide position 2897. The arginine at codon 966 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000643738 SCV000765425 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728296 SCV000855849 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000728296 SCV001983015 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000728296 SCV003819027 uncertain significance not provided 2019-05-13 criteria provided, single submitter clinical testing

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