Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001995366 | SCV002254077 | uncertain significance | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 712 of the MYO18B protein (p.Arg712His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYO18B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1471023). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Center for Genomics, |
RCV003224600 | SCV003920258 | uncertain significance | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | MYO18B NM_001318245.2 exon 9 p.Arg712His (c.2135G>A): This variant has not been reported in the literature but is present in 0.003% (9/232204) of total alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/22-26176089-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
| Ambry Genetics | RCV003355717 | SCV004073589 | uncertain significance | Inborn genetic diseases | 2023-08-21 | criteria provided, single submitter | clinical testing | The c.2135G>A (p.R712H) alteration is located in exon 9 (coding exon 8) of the MYO18B gene. This alteration results from a G to A substitution at nucleotide position 2135, causing the arginine (R) at amino acid position 712 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |