ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.13139del (p.Pro4380fs)

dbSNP: rs80338754
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192936 SCV000247858 likely pathogenic Donnai-Barrow syndrome 2015-04-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731873 SCV000859736 likely pathogenic not provided 2018-02-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000192936 SCV002786068 likely pathogenic Donnai-Barrow syndrome 2024-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000731873 SCV004278074 pathogenic not provided 2023-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 211391). This variant has not been reported in the literature in individuals affected with LRP2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Pro4380Hisfs*46) in the LRP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRP2 are known to be pathogenic (PMID: 17632512, 25682901).

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