ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr)

dbSNP: rs121909488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001289550 SCV001477502 likely pathogenic Nail-patella syndrome 2020-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558794 SCV004296078 uncertain significance not provided 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 118 of the LMX1B protein (p.Cys118Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with nail-patella syndrome (PMID: 10571942). This variant is also known as C95Y. ClinVar contains an entry for this variant (Variation ID: 995576). 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 expected to disrupt LMX1B protein function with a positive predictive value of 80%. This variant disrupts the p.Cys118 amino acid residue in LMX1B. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9618165). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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