ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)

gnomAD frequency: 0.00009  dbSNP: rs200984007
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252653 SCV000318453 likely benign Cardiovascular phenotype 2013-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Eurofins Ntd Llc (ga) RCV000385148 SCV000336073 uncertain significance not provided 2016-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000385148 SCV001153077 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Invitae RCV001460333 SCV001664200 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987478 SCV004804104 uncertain significance not specified 2024-01-03 criteria provided, single submitter clinical testing Variant summary: TTN c.13452A>G (p.Glu4484Glu) alters a non-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 9.1e-05 in 231698 control chromosomes (gnomAD). To our knowledge, no occurrence of c.13452A>G in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as VUS (n=2) and likely benign (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.

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