ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1594G>T (p.Val532Leu)

dbSNP: rs545435120
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524734 SCV000634240 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2023-07-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 532 of the NBN protein (p.Val532Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 461516). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001012316 SCV001172749 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-01 criteria provided, single submitter clinical testing The p.V532L variant (also known as c.1594G>T), located in coding exon 11 of the NBN gene, results from a G to T substitution at nucleotide position 1594. The valine at codon 532 is replaced by leucine, an amino acid with highly 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 RCV001293999 SCV001482745 uncertain significance Aplastic anemia 2020-01-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000524734 SCV002044587 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000524734 SCV002078558 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-09-09 no assertion criteria provided clinical testing

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