ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.872A>C (p.Gln291Pro)

dbSNP: rs587778547
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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 RCV001018239 SCV001179449 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-04 criteria provided, single submitter clinical testing The p.Q291P variant (also known as c.872A>C), located in coding exon 7 of the NBN gene, results from an A to C substitution at nucleotide position 872. The glutamine at codon 291 is replaced by proline, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004569969 SCV005056153 uncertain significance Aplastic anemia 2024-02-08 criteria provided, single submitter clinical testing

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