ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)

dbSNP: rs748513310
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000636743 SCV000758184 pathogenic Microcephaly, normal intelligence and immunodeficiency 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys385Serfs*27) 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). This variant is present in population databases (rs748513310, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with NBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 530740). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002343244 SCV002620401 pathogenic Hereditary cancer-predisposing syndrome 2021-06-14 criteria provided, single submitter clinical testing The c.1154_1155delAA pathogenic mutation, located in coding exon 10 of the NBN gene, results from a deletion of two nucleotides at nucleotide positions 1154 to 1155, causing a translational frameshift with a predicted alternate stop codon (p.K385Sfs*27). 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 RCV003471998 SCV004199690 pathogenic Aplastic anemia 2023-03-04 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences RCV001554322 SCV001775488 likely pathogenic Breast carcinoma 2021-08-09 no assertion criteria provided clinical testing

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