ClinVar Miner

Submissions for variant NM_004048.4(B2M):c.31G>C (p.Ala11Pro)

dbSNP: rs104894481
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000019314 SCV001388202 uncertain significance Hypoproteinemia, hypercatabolic 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 11 of the B2M protein (p.Ala11Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with familial hypercatabolic hypoproteinemia (PMID: 16549777). It has also been observed to segregate with disease in related individuals. This variant is also known as G913C. ClinVar contains an entry for this variant (Variation ID: 17740). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000019314 SCV000039603 pathogenic Hypoproteinemia, hypercatabolic 2006-03-28 no assertion criteria provided literature only

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.