ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser)

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 RCV002591316 SCV002953004 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3881 of the HMCN1 protein (p.Gly3881Ser). This variant is present in population databases (rs779380704, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1920858). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Ambry Genetics RCV004065748 SCV003957347 uncertain significance not specified 2023-03-29 criteria provided, single submitter clinical testing The c.11641G>A (p.G3881S) alteration is located in exon 76 (coding exon 76) of the HMCN1 gene. This alteration results from a G to A substitution at nucleotide position 11641, causing the glycine (G) at amino acid position 3881 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455545 SCV004179884 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter 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.