ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)

gnomAD frequency: 0.00026  dbSNP: rs201298767
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Total submissions: 5
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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 RCV000214103 SCV000272840 uncertain significance not specified 2017-06-28 criteria provided, single submitter clinical testing The p.Gly33323Ser variant in TTN has been reported by our laboratory in 1 indivi dual with DCM, has been identified in 0.07% (16/24010) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbS NP rs201298767), and has been reported in ClinVar (Variation ID: 229575). While truncating variants in TTN are strongly associated with DCM (Herman 2012), the r ole of missense variants and in-frame deletions/insertions has yet to be elucida ted. Computational prediction tools and conservation analysis do not provide str ong support for or against an impact to the protein. In summary, the clinical si gnificance of the p.Gly33323Ser variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000464566 SCV000542432 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727309 SCV000707463 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000727309 SCV002541899 uncertain significance not provided 2021-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415907 SCV002680053 likely benign Cardiovascular phenotype 2020-02-12 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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