ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15650G>A (p.Ser5217Asn)

gnomAD frequency: 0.00001  dbSNP: rs1479096219
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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 RCV000756855 SCV000884808 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing The c.11918G>A; p.Ser3973Asn 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 an overall population frequency of 0.007 % (identified on 2 out of 30,946 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). This variant was detected in an unaffected individual who was an obligate heterozygote for Barth syndrome and in whom a pathogenic TAZ variant was detected. Thus, this TTN variant is considered likely benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486927 SCV004239829 likely benign Cardiomyopathy 2023-03-14 criteria provided, single submitter clinical testing

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