ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.8765G>A (p.Ser2922Asn)

gnomAD frequency: 0.00008  dbSNP: rs777692110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755695 SCV002005311 uncertain significance not provided 2024-11-20 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002540704 SCV003737445 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.8765G>A (p.S2922N) alteration is located in exon 56 (coding exon 56) of the CUBN gene. This alteration results from a G to A substitution at nucleotide position 8765, causing the serine (S) at amino acid position 2922 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038313 SCV005670362 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-01-05 criteria provided, single submitter clinical testing

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