ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1990AAC[1] (p.Asn665del)

dbSNP: rs780882911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203297 SCV001374454 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing This variant, c.1993_1995del, results in the deletion of 1 amino acid(s) of the LRP5 protein (p.Asn665del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780882911, gnomAD 0.004%). 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: 934824). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002484093 SCV002790599 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 2022-05-26 criteria provided, single submitter clinical testing

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