Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Foundation for Research in Genetics and Endocrinology, |
RCV002284964 | SCV002573591 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2022-02-25 | criteria provided, single submitter | clinical testing | A heterozygous missense variant in exon 7 of the COL5A1 gene that results in the amino acid substitution of Methionine for Threonine at codon 348 was detected. The observed variant c.1043C>T (p.Thr348Met) has not been reported in the 1000 genomes and has a MAF of 0.002% in the gnomAD databases. The in silico prediction of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT and MutationTaster2. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance. |
| Labcorp Genetics |
RCV002284964 | SCV004526414 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-03-12 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV005051955 | SCV005686286 | uncertain significance | not provided | 2024-07-22 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); This variant is associated with the following publications: (PMID: 22696272) |