ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4015G>C (p.Glu1339Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004979369 SCV005567752 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.4015G>C (p.E1339Q) alteration is located in exon 27 (coding exon 27) of the CUBN gene. This alteration results from a G to C substitution at nucleotide position 4015, causing the glutamic acid (E) at amino acid position 1339 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038891 SCV005667191 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-02-19 criteria provided, single submitter clinical testing

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