ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.3197A>G (p.Asn1066Ser)

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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 RCV004979375 SCV005567758 uncertain significance Inborn genetic diseases 2024-09-03 criteria provided, single submitter clinical testing The c.3197A>G (p.N1066S) alteration is located in exon 23 (coding exon 23) of the CUBN gene. This alteration results from a A to G substitution at nucleotide position 3197, causing the asparagine (N) at amino acid position 1066 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038892 SCV005669134 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-06-04 criteria provided, single submitter clinical testing

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