ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.697A>C (p.Lys233Gln)

dbSNP: rs1554564205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002503300 SCV002791765 uncertain significance Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2022-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004945718 SCV005455366 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-29 criteria provided, single submitter clinical testing The p.K233Q variant (also known as c.697A>C), located in coding exon 6 of the NBN gene, results from an A to C substitution at nucleotide position 697. The lysine at codon 233 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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