ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) (rs121908664)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414333 SCV000490604 likely pathogenic not provided 2016-09-16 criteria provided, single submitter clinical testing The R494Q variant in the LRP5 gene has been reported previously as a homozygous variant in an individual with suspected osteoporosis-pseudoglioma syndrome (Gong et al., 2001; Ai et al., 2005). The R494Q variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Functional studies have shown that the R494Q variant affects Wnt1 signaling (Bhat et al., 2007). The R494Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. The R494Q variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000006652 SCV000026835 pathogenic Osteoporosis with pseudoglioma 2001-11-16 no assertion criteria provided literature only

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