ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter)

dbSNP: rs1218582533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783614 SCV002017182 pathogenic not provided 2019-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541153 SCV003468629 pathogenic Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln944*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1323250). For these reasons, this variant has been classified as Pathogenic.

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