ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)

dbSNP: rs121908974
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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 RCV001009876 SCV001170001 pathogenic Hereditary cancer-predisposing syndrome 2019-05-06 criteria provided, single submitter clinical testing The p.Y363* pathogenic mutation (also known as c.1089C>G), located in coding exon 9 of the NBN gene, results from a C to G substitution at nucleotide position 1089. This changes the amino acid from a tyrosine to a stop codon within coding exon 9. 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.
Genome-Nilou Lab RCV001800916 SCV002045344 pathogenic Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001800916 SCV004454034 pathogenic Microcephaly, normal intelligence and immunodeficiency 2023-04-07 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: 818355). This premature translational stop signal has been observed in individual(s) with clinical features of Nijmegen breakage syndrome who were homozygous for the variant (PMID: 12447395, 15593232). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr363*) 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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