ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93881_93886del (p.Ala31294_Gly31295del)

dbSNP: rs772807300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393628 SCV000345036 uncertain significance not provided 2016-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365325 SCV002663859 uncertain significance Cardiovascular phenotype 2021-10-26 criteria provided, single submitter clinical testing The c.66686_66691delCTGGTG variant (also known as p.A22229_G22230del) is located in coding exon 166 of the TTN gene. This variant results from an in-frame CTGGTG deletion at nucleotide positions 66686 to 66691. This results in the in-frame deletion of alanine and glycine residues at codons 22229 and 22230. These amino acid positions are highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000393628 SCV003826728 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing

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