ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1552A>G (p.Asn518Asp)

dbSNP: rs757733890
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205603 SCV001376868 uncertain significance Charcot-Marie-Tooth disease type 2 2019-07-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 asparagine with aspartic acid at codon 518 of the LMNA protein (p.Asn518Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid.
GeneDx RCV001773460 SCV001993387 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Missense variants in nearby residues reported in the Human Gene Mutation Database (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Revvity Omics, Revvity RCV001773460 SCV003814727 uncertain significance not provided 2020-02-04 criteria provided, single submitter clinical testing

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