Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707051 | SCV000836131 | uncertain significance | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2023-08-10 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 582868). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 537 of the ITGA7 protein (p.Arg537Gln). |
Revvity Omics, |
RCV000707051 | SCV003811408 | uncertain significance | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2019-09-25 | criteria provided, single submitter | clinical testing |