ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94057A>T (p.Thr31353Ser)

dbSNP: rs727503548
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Total submissions: 2
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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 RCV000152185 SCV000200922 uncertain significance not specified 2014-03-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr28785Ser var iant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. The affected amino acid is not well conserved in evolution and multiple fish species have a serine (Ser) at this position, sugge sting that this change may be tolerated. Other computational analyses do not pro vide strong support for or against an impact to the protein. The lack of evoluti onary conservation argues against a role in disease but additional information i s needed to fully assess the clinical significance of this variant.
Eurofins Ntd Llc (ga) RCV000726272 SCV000343350 uncertain significance not provided 2016-07-18 criteria provided, single submitter clinical testing

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