ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)

gnomAD frequency: 0.00003  dbSNP: rs727504923
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Total submissions: 4
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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 RCV000156313 SCV000206031 uncertain significance not specified 2014-02-17 criteria provided, single submitter clinical testing The Arg28493His variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do n ot provide strong support for or against an impact to the protein. Additional in formation is needed to fully assess the clinical significance of this variant.
GeneDx RCV000184991 SCV000237775 likely benign not provided 2020-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643636 SCV000765323 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372023 SCV002667184 likely benign Cardiovascular phenotype 2020-08-31 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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