ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95851_95853del (p.Lys31951del)

dbSNP: rs752016475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254409 SCV000318691 uncertain significance Cardiovascular phenotype 2013-05-27 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Revvity Omics, Revvity RCV003137859 SCV003826610 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005055805 SCV005725739 uncertain significance not specified 2024-11-26 criteria provided, single submitter clinical testing Variant summary: TTN c.88147_88149delAAG (p.Lys29383del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant allele was found at a frequency of 1.6e-05 in 248740 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.88147_88149delAAG in individuals affected with TTN-related conditions and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 263626). Based on the evidence outlined above, the variant was classified as uncertain significance.

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