ClinVar Miner

Submissions for variant NM_014585.6(SLC40A1):c.800G>A (p.Gly267Asp)

gnomAD frequency: 0.00004  dbSNP: rs104893664
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000005751 SCV004642207 pathogenic Hemochromatosis type 4 2024-02-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 267 of the SLC40A1 protein (p.Gly267Asp). This variant is present in population databases (rs104893664, gnomAD 0.05%). This missense change has been observed in individual(s) with isolated hyperferritinemia (PMID: 16351644). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5418). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005751 SCV000025933 pathogenic Hemochromatosis type 4 2005-12-01 no assertion criteria provided literature only
Laboratory of Molecular Genetics and Genomics, Rennes University Hospital RCV000005751 SCV001445855 likely pathogenic Hemochromatosis type 4 2020-07-01 no assertion criteria provided clinical testing

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.