ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470420 SCV002767835 pathogenic Nail-patella syndrome 2020-10-19 criteria provided, single submitter clinical testing A heterozygous nonsense variant was identified, NM_002316.3(LMX1B):c.949C>T in exon 7 of 8 of the LMX1B gene. This nonsense variant is predicted to create a change of glutamine to a stop at amino acid position 317 of the protein, NP_002307.2(LMX1B):p.(Gln317*), resulting in the loss of normal protein function through nonsense-mediated decay (NMD). The variant is not present in the gnomAD population database. The variant has not been previously reported in clinical cases. Other variants predicted to cause NMD have been reported as pathogenic in individuals Nail-patella syndrome (MIM#161200), AD. Based on information available at the time of curation, this variant has been classified as PATHOGENIC. Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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