ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.115C>T (p.Pro39Ser)

gnomAD frequency: 0.00001  dbSNP: rs771784052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250525 SCV001425329 uncertain significance Nail-patella syndrome 2020-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003373088 SCV004064675 uncertain significance Inborn genetic diseases 2023-06-22 criteria provided, single submitter clinical testing The c.115C>T (p.P39S) alteration is located in exon 1 (coding exon 1) of the LMX1B gene. This alteration results from a C to T substitution at nucleotide position 115, causing the proline (P) at amino acid position 39 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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