ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8576C>T (p.Ser2859Leu)

dbSNP: rs1574564600
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV000999589 SCV001156291 uncertain significance Hypertrophic cardiomyopathy 2018-10-11 criteria provided, single submitter research TTN Ser2859Leu has not been previously reported and is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in HCM proband with no family history of disease. In silico tool, SIFT predicts this variant to be deleterious, but MutationTaster and PolyPhen2 predicts it to be benign. Based on this information we classify this as a variant of 'uncertain significance'.

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