ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) (rs28933092)

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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, Partners HealthCare Personalized Medicine RCV000211791 SCV000204101 pathogenic Primary dilated cardiomyopathy 2015-08-21 criteria provided, single submitter clinical testing The p.Glu203Gly variant in LMNA has been reported in 1 family with DCM and condu ction system disease (Fatkin 1999), where it segregated with disease in 5 indivi duals with DCM and 4 individuals with AV block (Fatkin 1999, C. Seidman, pers co mm). One functional study suggests that this variant impacts the protein (Zhang 2008), while another had inconclusive findings (Ostlund 2001); however, these in vitro assays may not accurately represent biological function. This variant has not been identified in large population studies, but it is listed in dbSNP (rs2 8933092) without frequency information. Finally, another pathogenic variant has also been reported at this position (Glu203Lys; Jakobs 2001). In summary, this v ariant meets our criteria to be classified as pathogenic ( org/LMM) based upon segregation studies and absence from controls.
OMIM RCV000015573 SCV000035838 pathogenic Dilated cardiomyopathy 1A 1999-12-02 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057428 SCV000088542 not provided not provided no assertion provided not provided

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