ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter)

dbSNP: rs80338744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002298439 SCV002588005 pathogenic not provided 2022-04-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 9475100, 30029678, 25682901, 33403612, 19089858, 31452935, 29779033, 17632512)
Invitae RCV002298439 SCV004292647 pathogenic not provided 2023-08-02 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: 9457). This premature translational stop signal has been observed in individual(s) with Donnai-Barrow syndrome (PMID: 17632512, 25682901). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg365*) 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).
OMIM RCV000010065 SCV000030286 pathogenic Donnai-Barrow syndrome 2007-08-01 no assertion criteria provided literature only
GeneReviews RCV000010065 SCV000041093 not provided Donnai-Barrow syndrome no assertion provided literature only

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