ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48991_48993del (p.Ile16331del)

dbSNP: rs886039052
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254319 SCV000319833 uncertain significance Cardiovascular phenotype 2023-09-11 criteria provided, single submitter clinical testing The c.21796_21798delATT variant (also known as p.I7266del), located in coding exon 88 of the TTN gene, results from an in-frame ATT deletion at nucleotide positions 21796 to 21798. This results in the in-frame deletion of an isoleucine at codon 7266. 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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