ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.257G>A (p.Arg86His)

gnomAD frequency: 0.00083  dbSNP: rs138239756
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643975 SCV000765662 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129960 SCV003812745 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243230 SCV003965380 uncertain significance Inborn genetic diseases 2023-03-23 criteria provided, single submitter clinical testing The c.257G>A (p.R86H) alteration is located in exon 3 (coding exon 3) of the LRP4 gene. This alteration results from a G to A substitution at nucleotide position 257, causing the arginine (R) at amino acid position 86 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004533364 SCV004725221 likely benign LRP4-related disorder 2023-08-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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