ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7057+2dup

gnomAD frequency: 0.00002  dbSNP: rs765019023
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172463 SCV000055102 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000172463 SCV000859441 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000172463 SCV000928192 likely pathogenic not provided 2019-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165358 SCV003858712 uncertain significance Cardiovascular phenotype 2023-02-27 criteria provided, single submitter clinical testing The c.6919+2dupT intronic variant is located 2 nucleotides after coding exon 28 of the TTN gene. This variant results from a duplication of one nucleotide at nucleotide position c.6919+2. This alteration (referred to as NM_133378.4:c.7057+2dup) has been reported as a secondary cardiac variant in an exome cohort; however, clinical details are limited (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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