ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.812G>C (p.Arg271Thr)

dbSNP: rs2490689252
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002825054 SCV003209904 likely pathogenic not provided 2022-09-29 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg271 amino acid residue in LMX1B. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18595794). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. This missense change has been observed in individual(s) with nail-patella syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 271 of the LMX1B protein (p.Arg271Thr).

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