Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690127 | SCV000817805 | uncertain significance | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2021-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 1100 of the ITGA7 protein (p.Leu1100Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs370654924, ExAC 0.008%). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Gene |
RCV001766478 | SCV001990325 | uncertain significance | not provided | 2019-07-22 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002547146 | SCV003755620 | uncertain significance | Inborn genetic diseases | 2021-10-26 | criteria provided, single submitter | clinical testing | The c.3299T>C (p.L1100P) alteration is located in exon 25 (coding exon 25) of the ITGA7 gene. This alteration results from a T to C substitution at nucleotide position 3299, causing the leucine (L) at amino acid position 1100 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |