ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)

gnomAD frequency: 0.00003  dbSNP: rs397517493
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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 RCV000039933 SCV000063624 uncertain significance not specified 2011-10-06 criteria provided, single submitter clinical testing The Asp5411Asn variant (TTN) has not been previously reported or previously iden tified by our laboratory. Aspartic acid (Asp) at position 5411 is conserved in m ammals, chicken, and fish, indicating that a change may not be tolerated. Howeve r, two computational models (AlignGVGD and SIFT) predict this variant to be beni gn (their accuracy is unknown). In summary, additional data is needed to determi ne the clinical significance of this variant.
GeneDx RCV001703895 SCV000238272 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643024 SCV000764711 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001703895 SCV003823614 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing

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