ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) (rs201320326)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624387 SCV000740913 uncertain significance Inborn genetic diseases 2015-06-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732842 SCV000860834 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765010 SCV000896194 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Postmenopausal osteoporosis; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000732842 SCV001229101 uncertain significance not provided 2020-01-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 400 of the LRP5 protein (p.Ala400Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs201320326, ExAC 0.05%). This variant has not been reported in the literature in individuals with LRP5-related conditions. ClinVar contains an entry for this variant (Variation ID: 520692). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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