ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) (rs556205722)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155696 SCV000169644 benign not specified 2014-04-29 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155696 SCV000205406 likely benign not specified 2013-05-03 criteria provided, single submitter clinical testing p.Gly7277Gly in exon 85 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Invitae RCV000231186 SCV000286528 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000155696 SCV001338621 likely benign not specified 2020-04-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287543 SCV001474242 uncertain significance none provided 2020-04-30 criteria provided, single submitter clinical testing The TTN c.25563C>T; p.Gly8521= variant (rs556205722), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 137843). This variant is found in the general population with an overall allele frequency of 0.01% (20/280072 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site; however, RNA studies would be required to determine an effect on splicing. Even if used, the cryptic donor site would only be predicted to remove 26 amino acids and leave the remainder of the protein in-frame. However, due to limited information, the clinical significance of the c.25563C>T; p.Gly8521= variant is uncertain at this time.

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