ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr)

dbSNP: rs200052202
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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 RCV000039875 SCV000063566 uncertain significance not specified 2012-05-22 criteria provided, single submitter clinical testing The Ala396Thr variant in TTN has not been reported in the literature nor previou sly identified by our laboratory. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is need ed to fully assess the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000459489 SCV000542729 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483010 SCV002780881 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-05 criteria provided, single submitter clinical testing

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