ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.629T>G (p.Ile210Ser) (rs267607572)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057435 SCV000088549 not provided not provided no assertion provided not provided
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041357 SCV000065050 uncertain significance not specified 2013-11-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Ile210Ser v ariant in LMNA has been reported in 1 individual with DCM and AFib (Parks 2008) and identified by our laboratory in 1 individual with DCM. In addition, function al studies have shown that this variant impacts protein function (Cowan 2010). H owever, this in vitro assay may not accurately represent biological function. Th is variant was absent from large population studies. Computational analyses (bio chemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) su ggest that this variant may impact the protein, though this information is not p redictive enough to determine pathogenicity. In summary, while the presence in a ffected individuals, functional studies, and low frequency all suggest that the Ile210Ser variant may be pathogenic, additional studies are needed to fully asse ss its clinical significance.

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