ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)

gnomAD frequency: 0.00004  dbSNP: rs368786036
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000714122 SCV000114502 uncertain significance not provided 2013-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000714122 SCV000616937 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics RCV000714122 SCV000844797 uncertain significance not provided 2018-04-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000714122 SCV003819676 uncertain significance not provided 2022-04-29 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709826 SCV000840155 not provided Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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