ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.343G>A (p.Glu115Lys)

dbSNP: rs1649743062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320646 SCV001511441 uncertain significance Charcot-Marie-Tooth disease type 2 2020-04-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals with LMNA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 115 of the LMNA protein (p.Glu115Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Mayo Clinic Laboratories, Mayo Clinic RCV001508892 SCV001715325 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing

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