ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.2071G>T (p.Val691Phe)

dbSNP: rs772059959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014294 SCV001174988 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-30 criteria provided, single submitter clinical testing The p.V691F variant (also known as c.2071G>T) is located in coding exon 14 of the NBN gene. The valine at codon 691 is replaced by phenylalanine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 14. This amino acid position is 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.
Invitae RCV001315087 SCV001505643 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2020-02-27 criteria provided, single submitter clinical testing 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"). 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. This variant has not been reported in the literature in individuals with NBN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with phenylalanine at codon 691 of the NBN protein (p.Val691Phe). The valine residue is weakly conserved and there is a small physicochemical difference between valine and phenylalanine.
Genome-Nilou Lab RCV001315087 SCV002046068 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing

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