ClinVar Miner

Submissions for variant NM_005573.4(LMNB1):c.1138C>T (p.Leu380Phe)

dbSNP: rs2126727097
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823637 SCV002073230 uncertain significance Microcephaly 26, primary, autosomal dominant criteria provided, single submitter clinical testing The missense variant p.L380F in LMNB1 (NM_005573.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.L380F variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. In silico tools are damaging by predictions while the residue is semi-conserved across species. For these reasons, this variant has been classified as Uncertain Significance

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