ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)

dbSNP: rs786203920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167435 SCV000218291 pathogenic Hereditary cancer-predisposing syndrome 2023-04-26 criteria provided, single submitter clinical testing The p.K686* pathogenic mutation (also known as c.2056A>T), located in coding exon 13 of the NBN gene, results from an A to T substitution at nucleotide position 2056. This changes the amino acid from a lysine to a stop codon within coding exon 13. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516520 SCV003201681 pathogenic Microcephaly, normal intelligence and immunodeficiency 2022-05-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 187686). 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 creates a premature translational stop signal (p.Lys686*) in the NBN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040).

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