ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.593A>G (p.Asn198Ser)

dbSNP: rs1085307078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490446 SCV000267388 likely pathogenic Bone mineral density quantitative trait locus 1 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV001853389 SCV002122113 pathogenic not provided 2023-05-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 198 of the LRP5 protein (p.Asn198Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with high bone mass (PMID: 15141052, 26348019; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 225406). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LRP5 protein function. Experimental studies have shown that this missense change affects LRP5 function (PMID: 17052975).
Fulgent Genetics, Fulgent Genetics RCV005049487 SCV005684304 likely 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 2024-06-15 criteria provided, single submitter clinical testing

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