Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001986522 | SCV002284990 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2022-07-28 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 537 of the DSE protein (p.Ile537Phe). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1491434). 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: "Probably Damaging"; Align-GVGD: "Not Available"). 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. |
Genome Diagnostics Laboratory, |
RCV002276976 | SCV002565857 | uncertain significance | Ehlers-Danlos syndrome | 2021-05-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003250387 | SCV003942927 | uncertain significance | Inborn genetic diseases | 2023-04-13 | criteria provided, single submitter | clinical testing | The c.1609A>T (p.I537F) alteration is located in exon 6 (coding exon 5) of the DSE gene. This alteration results from a A to T substitution at nucleotide position 1609, causing the isoleucine (I) at amino acid position 537 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |