ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu)

gnomAD frequency: 0.00014  dbSNP: rs147609642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062124 SCV001226902 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1532 of the LRP4 protein (p.Val1532Leu). This variant is present in population databases (rs147609642, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 856623). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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 RCV001062124 SCV002781705 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986791 SCV005612833 uncertain significance Inborn genetic diseases 2024-10-09 criteria provided, single submitter clinical testing The c.4594G>C (p.V1532L) alteration is located in exon 31 (coding exon 31) of the LRP4 gene. This alteration results from a G to C substitution at nucleotide position 4594, causing the valine (V) at amino acid position 1532 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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