ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.1201G>A (p.Ala401Thr)

gnomAD frequency: 0.00001  dbSNP: rs761796969
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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 RCV001863920 SCV002125965 uncertain significance not provided 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 394 of the LMX1B protein (p.Ala394Thr). This variant is present in population databases (rs761796969, gnomAD 0.04%), 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: 1357819). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002478130 SCV002793304 uncertain significance Nail-patella syndrome; Nail-patella-like renal disease 2022-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547951 SCV003736285 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.1180G>A (p.A394T) alteration is located in exon 8 (coding exon 8) of the LMX1B gene. This alteration results from a G to A substitution at nucleotide position 1180, causing the alanine (A) at amino acid position 394 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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