ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val)

gnomAD frequency: 0.00004  dbSNP: rs748636802
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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 RCV001870124 SCV002119063 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-12-31 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1012 of the LRP4 protein (p.Gly1012Val). 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: 1356491). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LRP4 protein function. 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 RCV001870124 SCV002792502 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039586 SCV004899324 uncertain significance Inborn genetic diseases 2024-01-08 criteria provided, single submitter clinical testing The c.3035G>T (p.G1012V) alteration is located in exon 22 (coding exon 22) of the LRP4 gene. This alteration results from a G to T substitution at nucleotide position 3035, causing the glycine (G) at amino acid position 1012 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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