ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.524C>T (p.Pro175Leu)

dbSNP: rs1224541280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002340938 SCV002642502 uncertain significance Inborn genetic diseases 2019-01-08 criteria provided, single submitter clinical testing The p.P175L variant (also known as c.524C>T), located in coding exon 5 of the NIPBL gene, results from a C to T substitution at nucleotide position 524. The proline at codon 175 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003096668 SCV003035359 uncertain significance Cornelia de Lange syndrome 1 2022-09-16 criteria provided, single submitter clinical testing

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