Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000755795 | SCV000883369 | uncertain significance | not provided | 2017-09-16 | criteria provided, single submitter | clinical testing | The p.Pro3628Ser variant (rs564470089) has not been reported in the medical literature, and is found in a single chromosome in the Genome Aggregation Database (gnomAD) (out of 245,416 chromosomes). The proline at codon 3628 is highly conserved considering 12 species up to Zebrafish (Alamut software v2.9.0), and computational analyses suggest that this variant affects the ADGRV1 protein structure/function (SIFT: damaging, PolyPhen2: probably damaging, MutationTaster: disease causing). However, the available information is insufficient to determine the clinical significance of the p.Pro3628Ser variant with certainty. |
Athena Diagnostics Inc | RCV000755795 | SCV001142917 | uncertain significance | not provided | 2019-02-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000755795 | SCV001212282 | uncertain significance | not provided | 2023-07-21 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ADGRV1 protein function. ClinVar contains an entry for this variant (Variation ID: 617967). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. This variant is present in population databases (rs564470089, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3628 of the ADGRV1 protein (p.Pro3628Ser). 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. |