Submissions for variant NM_001174147.2(LMX1B):c.139+5G>C

dbSNP: rs1114167421

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001865521	SCV002249010	uncertain significance	not provided	2020-11-21	criteria provided, single submitter	clinical testing	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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of nail-patella syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 427734). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 1 of the LMX1B gene. It does not directly change the encoded amino acid sequence of the LMX1B protein. It affects a nucleotide within the consensus splice site of the intron.
CeGaT Center for Human Genetics Tuebingen	RCV001865521	SCV003917699	uncertain significance	not provided	2023-01-01	criteria provided, single submitter	clinical testing	LMX1B: PM2, PP3, PP4
Institute of Human Genetics, Cologne University	RCV000490642	SCV000575768	uncertain significance	Nail-patella syndrome		no assertion criteria provided	clinical testing