ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15318T>C (p.Ile5106=)

gnomAD frequency: 0.00001  dbSNP: rs537358981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756843 SCV000884786 likely benign not provided 2018-03-25 criteria provided, single submitter clinical testing The c.11586T>C; p.Ile3862Ile variant does not alter the amino acid sequence of the TTN protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant is listed in the genome Aggregation Database (gnomAD) with a South Asian population frequency of 0.006% (identified on 2 out of 30,750 chromosomes), and evidence suggests that the vast majority of rare non-truncating TTN variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the c.11586T>C variant is likely to be benign.
PreventionGenetics, part of Exact Sciences RCV003938137 SCV004749954 likely benign TTN-related condition 2019-03-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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