ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)

gnomAD frequency: 0.00007  dbSNP: rs374538208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205838 SCV001377115 pathogenic Imerslund-Grasbeck syndrome 2021-01-12 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 CUBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 936927). This variant is present in population databases (rs374538208, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Trp2365*) in the CUBN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CUBN are known to be pathogenic (PMID: 15024727, 22929189).
Fulgent Genetics, Fulgent Genetics RCV002497701 SCV002810437 likely pathogenic Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-07-27 criteria provided, single submitter clinical testing

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