ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser)

gnomAD frequency: 0.00019  dbSNP: rs557331348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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.
GeneDx 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)

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