ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.101T>G (p.Leu34Arg)

dbSNP: rs1012390181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549829 SCV000634193 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 34 of the NBN protein (p.Leu34Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC 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: 461490). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002298649 SCV002598731 uncertain significance not specified 2022-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367816 SCV002666779 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-23 criteria provided, single submitter clinical testing The p.L34R variant (also known as c.101T>G), located in coding exon 2 of the NBN gene, results from a T to G substitution at nucleotide position 101. The leucine at codon 34 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly 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.

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