ClinVar Miner

Submissions for variant NM_004407.4(DMP1):c.1433A>C (p.Asp478Ala)

gnomAD frequency: 0.00043  dbSNP: rs148156611
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591664 SCV000705644 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001156817 SCV001318344 uncertain significance Hypophosphatemic rickets, autosomal recessive, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000591664 SCV001418235 uncertain significance not provided 2022-07-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 478 of the DMP1 protein (p.Asp478Ala). This variant is present in population databases (rs148156611, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with DMP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 499915). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Breakthrough Genomics, Breakthrough Genomics RCV000591664 SCV005190173 uncertain significance not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000591664 SCV005410561 uncertain significance not provided 2023-08-31 criteria provided, single submitter clinical testing BP4

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.