ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)

dbSNP: rs397517911
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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 RCV000041375 SCV000065068 likely pathogenic Primary dilated cardiomyopathy 2012-08-13 criteria provided, single submitter clinical testing The Ala288Gly variant in LMNA has not been reported in the literature nor in 2 l arge and broad populations (European and African American) screened by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). This low frequen cy supports a pathogenic role. Our laboratory has detected this variant in one i ndividual with DCM + atrial fibrillation as well as one affected family member w ith atrial fibrillation. The constellation of features present in this family is consistent with a laminopathy. Computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ala288 Gly variant may impact the protein, though this information is not predictive en ough to determine pathogenicity. In summary, this variant is likely to be pathog enic, though additional studies are required to establish this with certainty.

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