ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1429A>T (p.Thr477Ser)

gnomAD frequency: 0.00001  dbSNP: rs727503705
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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 RCV000152527 SCV000201717 uncertain significance not specified 2013-04-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr477Ser varia nt in TTN has not been reported in individuals with cardiomyopathy or in large p opulation studies. Threonine (Thr) at position 477 is not fully conserved in evo lutionarily distant species, and 2 mammals (rabbit and pika) carry a serine (Ser ; this variant) at this position, suggesting that this change may be tolerated. Other computational analyses (biochemical amino acid properties, AlignGVGD, Poly Phen2, and SIFT) do not provide strong support for or against an impact to the p rotein. Additional studies are needed to fully assess the clinical significance of this variant.
Invitae RCV000542828 SCV000642690 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-28 criteria provided, single submitter clinical testing

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