ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.701A>G (p.Gln234Arg)

dbSNP: rs1586088352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798336 SCV000937948 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2018-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 234 of the NBN protein (p.Gln234Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NBN-related disease. This variant is not present in population databases (ExAC no frequency).

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