ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3523G>A (p.Ala1175Thr)

dbSNP: rs397517570
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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 RCV000040232 SCV000063923 uncertain significance not specified 2012-08-21 criteria provided, single submitter clinical testing The Ala1175Thr variant in TTN has not been previously identified in our laborato ry or in the literature. Computational analyses (biochemical amino acid properti es, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In addition, this variant is located in the last three bases of the exon, which is part of the 5? splice region. Comput ational tools do not suggest an impact to splicing, though this information is n ot predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of the Ala1175Thr variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001089291 SCV000555338 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726416 SCV000701390 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing

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