Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001892517 | SCV002149722 | uncertain significance | not provided | 2023-01-07 | 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"). ClinVar contains an entry for this variant (Variation ID: 1383335). This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.005%). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1631 of the HMCN1 protein (p.Phe1631Cys). |
| Ambry Genetics | RCV004041287 | SCV003864298 | uncertain significance | not specified | 2023-02-22 | criteria provided, single submitter | clinical testing | The c.4892T>G (p.F1631C) alteration is located in exon 31 (coding exon 31) of the HMCN1 gene. This alteration results from a T to G substitution at nucleotide position 4892, causing the phenylalanine (F) at amino acid position 1631 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Genome- |
RCV003452055 | SCV004179779 | uncertain significance | Age related macular degeneration 1 | 2023-04-11 | criteria provided, single submitter | clinical testing |