ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile)

gnomAD frequency: 0.00006  dbSNP: rs779663332
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642929 SCV000764616 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769871 SCV000901297 uncertain significance Cardiomyopathy 2017-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369695 SCV002668207 uncertain significance Cardiovascular phenotype 2020-02-21 criteria provided, single submitter clinical testing The p.V23077I variant (also known as c.69229G>A), located in coding exon 174 of the TTN gene, results from a G to A substitution at nucleotide position 69229. The valine at codon 23077 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483833 SCV002779849 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 2021-08-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488756 SCV004237429 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing

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