ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.902G>A (p.Arg301His)

gnomAD frequency: 0.00001  dbSNP: rs773510108
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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 RCV001352331 SCV001546878 uncertain significance not provided 2024-11-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 301 of the LMX1B protein (p.Arg301His). This variant is present in population databases (rs773510108, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with LMX1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047595). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt LMX1B protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV003246924 SCV003941967 uncertain significance Inborn genetic diseases 2023-03-31 criteria provided, single submitter clinical testing The c.902G>A (p.R301H) alteration is located in exon 7 (coding exon 7) of the LMX1B gene. This alteration results from a G to A substitution at nucleotide position 902, causing the arginine (R) at amino acid position 301 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003898336 SCV004713473 likely benign LMX1B-related disorder 2022-04-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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