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

gnomAD frequency: 0.00083  dbSNP: rs138239756

Total submissions: 4

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).