ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter)

dbSNP: rs1565785959
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699205 SCV000827905 pathogenic Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2017-11-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with LRP4-related disease. This sequence change creates a premature translational stop signal (p.Glu956*) in the LRP4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in LRP4 are known to be pathogenic (PMID: 23636941, 24924585). For these reasons, this variant has been classified as Pathogenic.

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