ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.2498del (p.Thr833fs)

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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 RCV003024237 SCV003324980 pathogenic Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-03-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LRP4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr833Lysfs*10) in the LRP4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRP4 are known to be pathogenic (PMID: 23636941, 24924585).

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