ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala)

gnomAD frequency: 0.00003  dbSNP: rs565423253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248802 SCV000320015 likely benign Cardiovascular phenotype 2019-06-26 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.
Invitae RCV000643704 SCV000765391 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137865 SCV003822175 uncertain significance not provided 2023-12-16 criteria provided, single submitter clinical testing

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