ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.10804G>A (p.Val3602Ile)

dbSNP: rs1180875976
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002883951 SCV003643565 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.10804G>A (p.V3602I) alteration is located in exon 67 (coding exon 67) of the CUBN gene. This alteration results from a G to A substitution at nucleotide position 10804, causing the valine (V) at amino acid position 3602 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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