ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1496A>G (p.Asn499Ser)

gnomAD frequency: 0.00009  dbSNP: rs150771999
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002140510 SCV002455115 likely benign not provided 2025-01-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002140510 SCV005218766 likely benign not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005050541 SCV005684350 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 2024-04-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744315 SCV005363800 uncertain significance LRP5-related disorder 2024-06-21 no assertion criteria provided clinical testing The LRP5 c.1496A>G variant is predicted to result in the amino acid substitution p.Asn499Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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