ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5418G>T (p.Leu1806Phe)

gnomAD frequency: 0.00001  dbSNP: rs397517650
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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 RCV000040446 SCV000064137 uncertain significance not specified 2013-01-28 criteria provided, single submitter clinical testing The Leu1806Phe variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has also not been identified in large and broad European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS), though it may be co mmon in other populations. Computational analyses (biochemical amino acid proper ties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong suppor t for or against an impact to the protein. Additional information is needed to f ully assess the clinical significance of this variant.
GeneDx RCV001797052 SCV002038634 uncertain significance not provided 2021-06-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 47176; Landrum et al., 2016)
Revvity Omics, Revvity RCV001797052 SCV004237140 uncertain significance not provided 2023-03-29 criteria provided, single submitter clinical testing

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