ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)

gnomAD frequency: 0.00064  dbSNP: rs199784966
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725164 SCV000237536 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29540445)
Eurofins Ntd Llc (ga) RCV000725164 SCV000334582 uncertain significance not provided 2015-09-14 criteria provided, single submitter clinical testing
Invitae RCV001082586 SCV000554989 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617309 SCV000735494 benign Cardiovascular phenotype 2020-04-14 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265602 SCV002547647 likely benign not specified 2022-05-02 criteria provided, single submitter clinical testing Variant summary: TTN c.66892A>G (p.Thr22298Ala) results in a non-conservative amino acid change located in the A-band of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00015 in 247246 control chromosomes, predominantly at a frequency of 0.0022 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 6 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Dilated Cardiomyopathy phenotype (0.00039), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (benign/likely benign n=3, VUS n=1). Based on the evidence outlined above, the variant was classified as likely benign.
Revvity Omics, Revvity Omics RCV000725164 SCV003827340 uncertain significance not provided 2020-12-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486643 SCV004240108 benign Cardiomyopathy 2023-06-02 criteria provided, single submitter clinical testing

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