ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del)

dbSNP: rs755947249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643649 SCV000765336 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424461 SCV002740589 uncertain significance Cardiovascular phenotype 2020-12-04 criteria provided, single submitter clinical testing The c.25412_25414delAAG variant (also known as p.E8471del) is located in coding exon 102 of the TTN gene. This variant results from an in-frame AAG deletion at nucleotide positions 25412 to 25414. This results in the in-frame deletion of a glutamic acid at codon 8471. This amino acid position is highly 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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