ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)

gnomAD frequency: 0.00053  dbSNP: rs201735487
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Total submissions: 8
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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 RCV000152474 SCV000201593 benign not specified 2014-03-12 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because the variant a minoacid is present in 13 other mammals and the variant has been identified in 0 .2% (8/3704) of African American chromosomes by the NHLBI Exome Sequencing Proje ct (http://evs.gs.washington.edu/EVS/; dbSNP rs201735487).
Labcorp Genetics (formerly Invitae), Labcorp RCV000468123 SCV000555181 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000152474 SCV000615968 likely benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840112 SCV002100921 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840113 SCV002100922 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840114 SCV002100923 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840111 SCV002100924 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152474 SCV003928664 uncertain significance not specified 2023-04-20 criteria provided, single submitter clinical testing Variant summary: TTN c.10303+1142C>G is located at a position not widely known to affect splicing. 4/4 computational 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 0.00014 in 229334 control chromosomes, predominantly at a frequency of 0.0018 within the African or African-American subpopulation in the gnomAD database. To our knowledge, no occurrence of c.10303+1142C>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 clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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