ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.910C>T (p.Arg304Cys)

gnomAD frequency: 0.00002  dbSNP: rs140495297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795182 SCV000934626 uncertain significance Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2023-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 304 of the LMNB2 protein (p.Arg304Cys). This variant is present in population databases (rs140495297, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of LMNB2-related conditions (PMID: 32041611). ClinVar contains an entry for this variant (Variation ID: 641848). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LMNB2 protein function with a positive predictive value of 80%. 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.
CeGaT Center for Human Genetics Tuebingen RCV003456431 SCV004185134 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing

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