ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)

dbSNP: rs1810267412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947519 SCV002127508 pathogenic Microcephaly, normal intelligence and immunodeficiency 2021-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with NBN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser630*) 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).
Ambry Genetics RCV002406960 SCV002723845 pathogenic Hereditary cancer-predisposing syndrome 2020-02-25 criteria provided, single submitter clinical testing The p.S630* pathogenic mutation (also known as c.1889C>A), located in coding exon 12 of the NBN gene, results from a C to A substitution at nucleotide position 1889. This changes the amino acid from a serine to a stop codon within coding exon 12. 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.
Baylor Genetics RCV004571457 SCV005056127 likely pathogenic Aplastic anemia 2024-03-05 criteria provided, single submitter clinical testing

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