ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.685C>T (p.Arg229Trp)

gnomAD frequency: 0.00006  dbSNP: rs766589610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171198 SCV000221395 likely pathogenic not provided criteria provided, single submitter research
Invitae RCV000171198 SCV001198368 likely pathogenic not provided 2023-06-13 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 191023). This missense change has been observed in individual(s) with autosomal recessive exudative retinopathy (PMID: 26355662, 27124789, 35277167; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs766589610, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 229 of the LRP5 protein (p.Arg229Trp).

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