ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)

gnomAD frequency: 0.00010  dbSNP: rs1276708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001106288 SCV001263336 uncertain significance Imerslund-Grasbeck syndrome type 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001759874 SCV002007803 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Fulgent Genetics, Fulgent Genetics RCV002482190 SCV002785780 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-02-04 criteria provided, single submitter clinical testing

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