ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30248G>A (p.Arg10083His)

gnomAD frequency: 0.00002  dbSNP: rs759347532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV000999588 SCV001156290 uncertain significance Hypertrophic cardiomyopathy 2018-10-16 criteria provided, single submitter research TTN Arg10083His has not been previously reported and is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in HCM proband of Aboriginal and European descent with no family history of disease. In silico tools, PolyPhen2 and CADD predict this variant to be deleterious, but MutationTaster predicts it to be a 'polymorphism'. Based on this information we classify this as a variant of 'uncertain significance'.
Fulgent Genetics, Fulgent Genetics RCV002505526 SCV002816577 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 2021-11-05 criteria provided, single submitter clinical testing

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