ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6897C>A (p.His2299Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005382842 SCV006034566 uncertain significance Inborn genetic diseases 2025-01-21 criteria provided, single submitter clinical testing The c.6897C>A (p.H2299Q) alteration is located in exon 40 (coding exon 39) of the NIPBL gene. This alteration results from a C to A substitution at nucleotide position 6897, causing the histidine (H) at amino acid position 2299 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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