ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val)

dbSNP: rs1835097031
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002275567 SCV002564174 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-10-01 criteria provided, single submitter clinical testing The inherited heterozygous missense variant c.3605C>T (p.Ala1202Val) identified in exon 25 (of 67) of the CUBN gene has not beenreported in affected individuals the literature. The variant is absent in the gnomAD(v3) database suggesting it is not a common benign variant in the populations represented in that database. Two heterozygous missense variants resulting in a different amino acid change (p.Ala1202Ser and p.Ala1202Thr) at this codon have been reported as variant of uncertain significance and/or likely benign in ClinVar (Variation ID: 877581 and 299487). The affected residue (Ala1202) is not conserved.In silico tools provide conflicting predictions about pathogenicity of this variant (CADD score = 22.00, REVEL score = 0.100). Due to the lack of compelling evidencefor its pathogenicity, the heterozygous c.3605C>T (p.Ala1202Val) missense variant identified in the CUBN gene is reported as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.