ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3577G>A (p.Val1193Met)

gnomAD frequency: 0.00002  dbSNP: rs727503699
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Total submissions: 3
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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 RCV000152512 SCV000201691 likely benign not specified 2013-03-26 criteria provided, single submitter clinical testing Val1193Met in exon 22 of TTN: This variant is not expected to have clinical sign ificance due to a lack of conservation across species. Of note, multiple mammals have a methionine (Met) at this position despite high nearby amino acid conserv ation. In addition, computational analyses (AlignGVGD, PolyPhen2, SIFT) do not s uggest a high likelihood of impact to the protein.
GeneDx RCV000833266 SCV000975028 likely benign not provided 2018-06-20 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.
Ambry Genetics RCV002453502 SCV002615193 likely benign Cardiovascular phenotype 2019-08-26 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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