ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)

gnomAD frequency: 0.00045  dbSNP: rs372419267
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226574 SCV000286704 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618429 SCV000736545 likely benign Cardiovascular phenotype 2020-07-24 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.
Fulgent Genetics, Fulgent Genetics RCV000764332 SCV000895351 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001551023 SCV001771441 likely benign not provided 2020-07-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Revvity Omics, Revvity RCV001551023 SCV003825511 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing

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