ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80692_80697del (p.Lys26898_Ile26899del)

dbSNP: rs1385301438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000623540 SCV000740490 uncertain significance not specified 2017-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343174 SCV002646278 uncertain significance Cardiovascular phenotype 2020-03-23 criteria provided, single submitter clinical testing The c.53497_53502delAAAATA variant (also known as p.K17833_I17834del) is located in coding exon 153 of the TTN gene. This variant results from an in-frame deletion of six nucleotides at positions 53497 to 53502. This results in the deletion of two amino acids between codons 17833 and 17834. These amino acid position are well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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