ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn)

gnomAD frequency: 0.00006  dbSNP: rs200601125
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001099294 SCV001255737 uncertain significance Age related macular degeneration 1 2018-03-02 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856347 SCV002296226 uncertain significance not provided 2023-07-22 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 875444). This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. This variant is present in population databases (rs200601125, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 552 of the HMCN1 protein (p.Thr552Asn). 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 RCV004032049 SCV003532326 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing The c.1655C>A (p.T552N) alteration is located in exon 11 (coding exon 11) of the HMCN1 gene. This alteration results from a C to A substitution at nucleotide position 1655, causing the threonine (T) at amino acid position 552 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001099294 SCV004179735 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.