ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.727G>C (p.Val243Leu)

dbSNP: rs786203253
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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 RCV000530856 SCV000634326 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2023-05-30 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 461578). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 243 of the NBN protein (p.Val243Leu).
Ambry Genetics RCV000571357 SCV000666556 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-03 criteria provided, single submitter clinical testing The p.V243L variant (also known as c.727G>C), located in coding exon 7 of the NBN gene, results from a G to C substitution at nucleotide position 727. The valine at codon 243 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well 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.
Genome-Nilou Lab RCV000530856 SCV002044802 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571357 SCV002536711 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-23 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002506321 SCV002812253 uncertain significance Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2021-07-14 criteria provided, single submitter clinical testing

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