ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2153A>C (p.Glu718Ala)

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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 RCV004979368 SCV005567751 uncertain significance Inborn genetic diseases 2024-07-31 criteria provided, single submitter clinical testing The c.2153A>C (p.E718A) alteration is located in exon 17 (coding exon 17) of the CUBN gene. This alteration results from a A to C substitution at nucleotide position 2153, causing the glutamic acid (E) at amino acid position 718 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038890 SCV005670557 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-05-16 criteria provided, single submitter clinical testing

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