ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.329G>C (p.Arg110Pro)

dbSNP: rs556237236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182352 SCV000234665 uncertain significance not provided 2022-05-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV001852312 SCV002145951 uncertain significance Charcot-Marie-Tooth disease type 2 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 110 of the LMNA protein (p.Arg110Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 200930). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is not present in population databases (ExAC no frequency).

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