ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.515T>C (p.Val172Ala)

dbSNP: rs1554566701
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574936 SCV000662725 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-10 criteria provided, single submitter clinical testing The p.V172A variant (also known as c.515T>C), located in coding exon 5 of the NBN gene, results from a T to C substitution at nucleotide position 515. The valine at codon 172 is replaced by alanine, an amino acid with similar properties. This amino acid position is well 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.
Genome-Nilou Lab RCV001800771 SCV002045189 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476214 SCV002778745 uncertain significance Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2021-10-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691922 SCV005196019 uncertain significance not provided criteria provided, single submitter not provided

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