ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)

gnomAD frequency: 0.00001  dbSNP: rs397517609
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Total submissions: 4
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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 RCV000040332 SCV000064023 uncertain significance not specified 2013-04-05 criteria provided, single submitter clinical testing The Asp14847Asn variant in TTN has been identified by our laboratory in 1 Asian infant with DCM and was not identified in large population studies. Computationa l analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen 2, and SIFT) do not provide strong support for or against an impact to the prote in. At this time, additional information is needed to fully assess the clinical significance of the Asp14847Asn variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000642909 SCV000764596 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001588858 SCV001826723 likely benign not provided 2020-01-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001588858 SCV003825613 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing

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