ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.60del (p.Gly21fs) (rs758708229)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657335 SCV000779067 pathogenic not provided 2017-06-08 criteria provided, single submitter clinical testing This deletion of one nucleotide in NBN is denoted c.60delT at the cDNA level and p.Gly21AlafsX14 (G21AfsX14) at the protein level. The normal sequence, with the base that is deleted in brackets, is TGAC[delT]GGCG. The deletion causes a frameshift which changes a Glycine to an Alanine at codon 21, and creates a premature stop codon at position 14 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Invitae RCV000815061 SCV000955504 pathogenic Microcephaly, normal intelligence and immunodeficiency 2019-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly21Alafs*14) in the NBN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs758708229, ExAC 0.003%). This variant has not been reported in the literature in individuals with NBN-related disease. ClinVar contains an entry for this variant (Variation ID: 545793). Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001024899 SCV001186992 pathogenic Hereditary cancer-predisposing syndrome 2018-11-13 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV001024899 SCV001349945 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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