ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6070G>C (p.Ala2024Pro)

dbSNP: rs1064794672
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486857 SCV000569700 likely pathogenic not provided 2017-01-10 criteria provided, single submitter clinical testing A novel A2024P variant that is likely pathogenic has been identified in the NIPBL gene. The A2024P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. The A2024P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, this variant is apparently de novo. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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