ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.37+1G>A (rs574673404)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165888 SCV000216641 likely pathogenic Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Color RCV000165888 SCV000537621 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-26 criteria provided, single submitter clinical testing
Counsyl RCV000470841 SCV000798225 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2018-03-01 criteria provided, single submitter clinical testing
GeneKor MSA RCV000708614 SCV000821750 likely pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000470841 SCV000553112 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2018-04-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the NBN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs574673404, ExAC 0.01%). This variant has not been reported in the literature in individuals with NBN-related disease. ClinVar contains an entry for this variant (Variation ID: 186314). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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