ClinVar Miner

Submissions for variant NM_003319.4(TTN):c.19326_19406del (p.Lys6442_His6469delinsAsn)

dbSNP: rs1553713878
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Total submissions: 2
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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 RCV000040266 SCV000063957 uncertain significance not specified 2012-09-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Lys12939_Hi s12966delinsAsn variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant deletes 28 amino acid residues from lysine (Lys) at position 12939 to histidine (His) at position 12966 and ins erts an asparagine (Asn), but does not alter the protein reading frame. While th is variant results in the loss of a section of the protein, it is unclear how th is variant may impact the protein. Additional studies are needed to fully assess the clinical significance of this variant.
Ambry Genetics RCV002408532 SCV002720756 uncertain significance Cardiovascular phenotype 2021-02-02 criteria provided, single submitter clinical testing The c.19326_19406del81 variant (also known as p.K6442_H6469delinsN), located in coding exon 77 of the TTN gene, results from an in-frame deletion of 81 nucleotides at nucleotide positions 19326 to 19406. This results in an in-frame deletion of 28 amino acids and insertion of an asparagine residue. This amino acid region is 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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