Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001551431 | SCV001771940 | uncertain significance | not provided | 2024-07-15 | criteria provided, single submitter | clinical testing | Reported in a patient with a suspected connective tissue disorder, but no further information was provided such as zygosity, detailed clinical information, or familial segregation (PMID: 35903967); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35903967) |
| Labcorp Genetics |
RCV001859371 | SCV002309242 | uncertain significance | ALG9 congenital disorder of glycosylation | 2022-06-22 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 180 of the ATP6V0A2 protein (p.Ile180Thr). This variant is present in population databases (rs754727464, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ATP6V0A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1190639). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |
| Fulgent Genetics, |
RCV002476854 | SCV002792551 | uncertain significance | Cutis laxa with osteodystrophy; Wrinkly skin syndrome | 2021-09-15 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002570691 | SCV003717405 | uncertain significance | Inborn genetic diseases | 2021-10-21 | criteria provided, single submitter | clinical testing | The c.539T>C (p.I180T) alteration is located in exon 6 (coding exon 6) of the ATP6V0A2 gene. This alteration results from a T to C substitution at nucleotide position 539, causing the isoleucine (I) at amino acid position 180 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |