ClinVar Miner

Submissions for variant NM_001024688.2(NBN):c.1274_1277ATCT[1] (p.Ser427fs) (rs1554558449)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590402 SCV000697947 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The NBN c.1524_1527delATCT (p.Ser509Argfs) variant results in a premature termination codon, predicted to cause a truncated or absent NBN protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported by HGMD in association with various types of cancer. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121172 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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