Submissions for variant NM_002335.4(LRP5):c.54_55insTTG (p.Leu20_Ala21insLeu)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002617685	SCV002955568	uncertain significance	not provided	2022-12-06	criteria provided, single submitter	clinical testing	This variant, c.54_55insTTG, results in the insertion of 1 amino acid(s) of the LRP5 protein (p.Leu20dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LRP5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics	RCV005050611	SCV005684274	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	2024-06-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003898442	SCV004713764	likely benign	LRP5-related disorder	2022-12-20	no assertion criteria provided	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).