ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.116A>G (p.Asn39Ser)

gnomAD frequency: 0.00004  dbSNP: rs770308939
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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 RCV001234512 SCV001407163 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 39 of the LRP5 protein (p.Asn39Ser). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 960904). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is present in population databases (rs770308939, gnomAD 0.009%).
Fulgent Genetics, Fulgent Genetics RCV005050301 SCV005684281 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 2024-06-17 criteria provided, single submitter clinical testing

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