ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.703C>T (p.His235Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1554564044
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565872 SCV000662726 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-20 criteria provided, single submitter clinical testing The p.H235Y variant (also known as c.703C>T) is located in coding exon 7 of the NBN gene. The histidine at codon 235 is replaced by tyrosine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 7. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001339647 SCV001533404 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2023-10-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 235 of the NBN protein (p.His235Tyr). 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: 480050). 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 tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genome-Nilou Lab RCV001339647 SCV002044809 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470832 SCV004199550 uncertain significance Aplastic anemia 2023-09-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001339647 SCV002078637 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2020-12-16 no assertion criteria provided clinical testing

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