ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.614T>C (p.Ile205Thr)

dbSNP: rs786203215
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166430 SCV000217225 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-21 criteria provided, single submitter clinical testing The p.I205T variant (also known as c.614T>C), located in coding exon 6 of the NBN gene, results from a T to C substitution at nucleotide position 614. The isoleucine at codon 205 is replaced by threonine, an amino acid with some similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001217810 SCV001389662 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2022-07-23 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 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"). ClinVar contains an entry for this variant (Variation ID: 186781). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 205 of the NBN protein (p.Ile205Thr).
Genome-Nilou Lab RCV001217810 SCV002045160 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567301 SCV005056188 uncertain significance Aplastic anemia 2023-12-20 criteria provided, single submitter clinical testing

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