Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002614775 | SCV002964239 | uncertain significance | not provided | 2022-09-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with HMCN1-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 5231 of the HMCN1 protein (p.Val5231Met). |
Ambry Genetics | RCV004065909 | SCV003892764 | uncertain significance | not specified | 2023-01-20 | criteria provided, single submitter | clinical testing | The c.15691G>A (p.V5231M) alteration is located in exon 102 (coding exon 102) of the HMCN1 gene. This alteration results from a G to A substitution at nucleotide position 15691, causing the valine (V) at amino acid position 5231 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV003455552 | SCV004180637 | uncertain significance | Age related macular degeneration 1 | 2023-04-11 | criteria provided, single submitter | clinical testing |