ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.2861A>G (p.Tyr954Cys)

gnomAD frequency: 0.00002  dbSNP: rs775608977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365452 SCV001561724 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 954 of the LRP4 protein (p.Tyr954Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs775608977, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
GenomeConnect - Invitae Patient Insights Network RCV003483826 SCV004228952 not provided Cenani-Lenz syndactyly syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-10-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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