ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)

gnomAD frequency: 0.00001  dbSNP: rs1557112927
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 RCV001968446 SCV002243533 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2021-06-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with HCFC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 1597 of the HCFC1 protein (p.Ala1597Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.
Ambry Genetics RCV002569176 SCV003643802 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The c.4789G>A (p.A1597T) alteration is located in exon 19 (coding exon 19) of the HCFC1 gene. This alteration results from a G to A substitution at nucleotide position 4789, causing the alanine (A) at amino acid position 1597 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.