ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2280C>T (p.Val760=)

gnomAD frequency: 0.00005  dbSNP: rs727505021
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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 RCV000156445 SCV000206164 likely benign not specified 2014-05-01 criteria provided, single submitter clinical testing Val760Val in exon 14 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
GeneDx RCV000156445 SCV000236671 benign not specified 2014-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000473743 SCV000555030 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617670 SCV000735268 likely benign Cardiovascular phenotype 2016-01-06 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.
Genome-Nilou Lab RCV001840188 SCV002101581 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840189 SCV002101582 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840190 SCV002101583 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840187 SCV002101584 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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