ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.776dup (p.Ser259fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003693967 SCV004428285 pathogenic not provided 2023-01-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the LMX1B protein in which other variant(s) (p.Asn269Lys) have been determined to be pathogenic (PMID: 9590287; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal 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 creates a premature translational stop signal (p.Ser259Argfs*93) in the LMX1B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 137 amino acid(s) of the LMX1B protein.
Mayo Clinic Laboratories, Mayo Clinic RCV003693967 SCV005413902 likely pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing PM2, PVS1

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