ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53943A>T (p.Gly17981=)

gnomAD frequency: 0.00003  dbSNP: rs367580862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868264 SCV001009573 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001759652 SCV001985296 uncertain significance not provided 2021-07-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#700184; Landrum et al., 2016)
CeGaT Center for Human Genetics Tuebingen RCV001759652 SCV002496587 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Ambry Genetics RCV003169149 SCV003860952 likely benign Cardiovascular phenotype 2023-02-13 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.

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