ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)

dbSNP: rs2098614719
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073443 SCV001238985 likely pathogenic Retinal dystrophy 2019-02-15 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001280719 SCV001468032 likely pathogenic not provided 2020-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001280719 SCV002114450 pathogenic not provided 2022-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe70*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 865885). This premature translational stop signal has been observed in individual(s) with clinical features of osteoporosis-pseudoglioma syndrome (PMID: 16252235). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database.
Fulgent Genetics, Fulgent Genetics RCV005049762 SCV005684285 pathogenic Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 2024-03-14 criteria provided, single submitter clinical testing

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