ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.1570C>T (p.Arg524Cys)

gnomAD frequency: 0.00001  dbSNP: rs201055797
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699451 SCV000828163 uncertain significance Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2022-08-31 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 576852). This variant has not been reported in the literature in individuals affected with LMNB2-related conditions. This variant is present in population databases (rs201055797, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 524 of the LMNB2 protein (p.Arg524Cys).

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