Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730423 | SCV000858158 | uncertain significance | not provided | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000730423 | SCV001231789 | pathogenic | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 6261 of the ADGRV1 protein (p.Leu6261Ser). This variant is present in population databases (rs557331348, gnomAD 0.009%). This missense change has been observed in individual(s) with ADGRV1-related conditions (PMID: 22135276; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 594999). 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 disruptive. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000730423 | SCV004012398 | uncertain significance | not provided | 2023-06-14 | criteria provided, single submitter | clinical testing | Reported in association with Usher syndrome in published literature (Le Quesne et al., 2012); however, clinical information was not provided; 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: 22135276) |