Total submissions: 3
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- |
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). |