ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4651G>A (p.Asp1551Asn)

gnomAD frequency: 0.00001  dbSNP: rs724159827
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005008056 SCV005630220 uncertain significance 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 2024-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089721 SCV005835946 uncertain significance not provided 2024-09-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1551 of the LRP5 protein (p.Asp1551Asn). This variant is present in population databases (rs724159827, gnomAD 0.005%). This missense change has been observed in individual(s) with polycystic liver disease (PMID: 24706814). ClinVar contains an entry for this variant (Variation ID: 162393). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt LRP5 protein function with a negative predictive value of 95%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on LRP5 function (PMID: 24706814). 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.
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV000149788 SCV000196582 not provided Polycystic liver disease 1 no assertion provided not provided
OMIM RCV000584765 SCV000692484 pathogenic POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS 2014-04-08 no assertion criteria provided literature only

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