ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68282C>T (p.Ser22761Phe)

gnomAD frequency: 0.00001  dbSNP: rs397517676
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Total submissions: 1
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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 RCV000040536 SCV000064227 uncertain significance not specified 2013-03-11 criteria provided, single submitter clinical testing The Ser20193Phe variant in TTN has not been reported in the literature, but has been previously identified by our laboratory in 1 individual with HCM who carrie d a likely pathogenic variant in another gene (LMM unpublished data). This varia nt has also not been identified in large European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS), though it may be present in other populations. Serine (Ser) at position 20 193 is not conserved in mammals, suggesting that a change at this position may b e tolerated. Additional computational analyses (biochemical amino acid propertie s, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical significance of the Ser20193Phe variant.

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