ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.1747C>T (p.Arg583Ter)

gnomAD frequency: 0.00002  dbSNP: rs1057516045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000408612 SCV000484443 likely pathogenic Pelger-Huët anomaly 2015-07-24 criteria provided, single submitter clinical testing This nucleotide substitution results in the introduction of a premature stop codon at position 583, NP_919424.1(LBR): p.(Arg583*). This is a novel variant, not present in diseae or population databases. It is the most distal truncating variant in LBR reported to date. It segregated with phenotype in 2 members of this family.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626821 SCV000747524 likely pathogenic Retrognathia; Femoral bowing; Disproportionate short stature; Rhizomelic arm shortening; Rhizomelic leg shortening; Short long bone 2017-01-01 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000408612 SCV000998460 uncertain significance Pelger-Huët anomaly 2019-08-04 criteria provided, single submitter clinical testing This LBR variant (rs1057516045) is rare (<0.1%) in a large population dataset (gnomAD: 4/251442 total alleles; 0.0016%; no homozygotes). Two submitters in ClinVar report this variant as likely pathogenic (Variation ID: 369680). This nonsense variant is predicted to lead to a premature stop codon in the last exon of the gene, likely escaping nonsense mediated decay and resulting in a truncated protein product. The function of the C terminal segment after the last transmembrane domain of the lamin B receptor is not known at this time. The clinical significance of c.1747C>T is uncertain at this time.

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