ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2389A>G (p.Met797Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002879179 SCV003644471 uncertain significance Inborn genetic diseases 2022-07-27 criteria provided, single submitter clinical testing The c.2389A>G (p.M797V) alteration is located in exon 11 (coding exon 11) of the LRP5 gene. This alteration results from a A to G substitution at nucleotide position 2389, causing the methionine (M) at amino acid position 797 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005050784 SCV005684817 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 2024-04-24 criteria provided, single submitter clinical testing

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