ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1748C>G (p.Ser583Trp) (rs59601651)

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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,Partners HealthCare Personalized Medicine RCV000155709 SCV000205419 uncertain significance not specified 2014-01-28 criteria provided, single submitter clinical testing The Ser583Trp variant in LMNA has not been reported in individuals with cardiomy opathy. Data from large population studies is insufficient to assess its freque ncy in the general population. Computational analyses (biochemical amino acid pr operties, conservation, PolyPhen2, and SIFT) suggest that this variant may impac t the protein, though this information is not predictive enough to determine pat hogenicity. Another variant at the same position (Ser583Leu) has been reported i n 3 individuals with familial partial lipodystrophy and segregated in 5 affected relatives (Savage 2004), which supports that a change at this position is not t olerated. In summary, the available data is so far consistent with a pathogenic role but additional studies are needed to fully assess the clinical significanc e of this variant.

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