ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1112T>C (p.Met371Thr)

dbSNP: rs1164240481
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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 RCV002024116 SCV002315133 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-09-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant is present in population databases (no rsID available, gnomAD 0.003%). ClinVar contains an entry for this variant (Variation ID: 1518776). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 371 of the LRP4 protein (p.Met371Thr).
Fulgent Genetics, Fulgent Genetics RCV002024116 SCV002782908 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004641896 SCV005137997 uncertain significance Inborn genetic diseases 2024-04-20 criteria provided, single submitter clinical testing The c.1112T>C (p.M371T) alteration is located in exon 10 (coding exon 10) of the LRP4 gene. This alteration results from a T to C substitution at nucleotide position 1112, causing the methionine (M) at amino acid position 371 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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