Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000696389 | SCV000824950 | uncertain significance | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2021-06-30 | 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ITGA7-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glutamic acid at codon 530 of the ITGA7 protein (p.Ala530Glu). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. |
| Ambry Genetics | RCV002533445 | SCV003588466 | uncertain significance | Inborn genetic diseases | 2021-12-02 | criteria provided, single submitter | clinical testing | The c.1589C>A (p.A530E) alteration is located in exon 12 (coding exon 12) of the ITGA7 gene. This alteration results from a C to A substitution at nucleotide position 1589, causing the alanine (A) at amino acid position 530 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |