ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20971A>G (p.Ser6991Gly)

dbSNP: rs397517496
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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 RCV000039948 SCV000063639 uncertain significance not specified 2012-05-09 criteria provided, single submitter clinical testing The Ser5747Gly variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant was absent from 2 very large and broad populations (European and African American) screened by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS). This low frequency is cons istent with a disease causing role; however, the affected amino acid (serine, Se r) at is only moderately well conserved in evolution, raising the possibility th at a change would be tolerated. Other computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support f or or against an impact to the protein. In summary, additional information is ne eded to fully assess the clinical significance of the Ser5747Gly variant.

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