ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1073G>A (p.Gly358Glu)

gnomAD frequency: 0.00003  dbSNP: rs1346581469
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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 RCV002916385 SCV003662515 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.1073G>A (p.G358E) alteration is located in exon 10 (coding exon 10) of the CUBN gene. This alteration results from a G to A substitution at nucleotide position 1073, causing the glycine (G) at amino acid position 358 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036587 SCV005673175 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-04-26 criteria provided, single submitter clinical testing

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