ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)

dbSNP: rs727505200
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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 RCV000156693 SCV000206414 likely benign not specified 2014-08-07 criteria provided, single submitter clinical testing Asp28940Asp in exon 290 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000156693 SCV004099822 uncertain significance not specified 2023-09-13 criteria provided, single submitter clinical testing Variant summary: TTN c.86820T>C (p.Asp28940Asp) alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.2e-05 in 223622 control chromosomes (gnomAD). 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.86820T>C in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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