ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del)

dbSNP: rs727503701
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152519 SCV000201706 likely benign not specified 2020-09-22 criteria provided, single submitter clinical testing The p.Lys762_Ala763del variant in TTN is classified as likely benign because it has been identified in 0.058% (18/30614) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BS1.
Eurofins Ntd Llc (ga) RCV000725247 SCV000335260 uncertain significance not provided 2015-09-11 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791209 SCV000930491 uncertain significance TTN-Related Disorders 2019-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000725247 SCV001784546 likely benign not provided 2019-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162620 SCV003860963 uncertain significance Cardiovascular phenotype 2022-12-27 criteria provided, single submitter clinical testing The c.2145_2150delTAAAGC variant (also known as p.K716_A717del) is located in coding exon 12 of the TTN gene. This variant results from an in-frame TAAAGC deletion at nucleotide positions 2145 to 2150. This results in the in-frame deletion of a at codon 716. This amino acid position is well 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.

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