ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99990A>G (p.Lys33330=)

gnomAD frequency: 0.00001  dbSNP: rs749702063
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273229 SCV000345020 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451526 SCV001655156 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021303 SCV005020819 likely benign Cardiovascular phenotype 2023-10-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005055837 SCV005726193 uncertain significance not specified 2024-11-19 criteria provided, single submitter clinical testing Variant summary: TTN c.92286A>G alters a non-conserved nucleotide resulting in a synonymous change. Several computational tools predict a significant impact on normal splicing: Two predict the variant abolishes a cryptic 5' donor site. Two predict the variant weakens a cryptic 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8.1e-06 in 247700 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.92286A>G in individuals affected with Autosomal Recessive Titinopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 290459). Based on the evidence outlined above, the variant was classified as uncertain significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005055837 SCV006065239 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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