Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003064889 | SCV003452666 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2022-06-12 | 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with DSE-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 57 of the DSE protein (p.Gln57His). |
Ambry Genetics | RCV003250725 | SCV003952372 | uncertain significance | Inborn genetic diseases | 2023-04-25 | criteria provided, single submitter | clinical testing | The c.171G>T (p.Q57H) alteration is located in exon 2 (coding exon 1) of the DSE gene. This alteration results from a G to T substitution at nucleotide position 171, causing the glutamine (Q) at amino acid position 57 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |