ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4452del (p.Ser1484fs)

dbSNP: rs2098677212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073627 SCV001239178 likely pathogenic Retinal dystrophy 2019-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862511 SCV002147033 pathogenic not provided 2023-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1484Argfs*15) in the LRP5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRP5 are known to be pathogenic (PMID: 11719191, 16252235, 25711638). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. ClinVar contains an entry for this variant (Variation ID: 865980). For these reasons, this variant has been classified as Pathogenic.

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