ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val) (rs761066341)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000613546 SCV000712275 uncertain significance not specified 2019-05-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Leu3625Val variant in ADGRV1 has been reported in the homozygous state in 1 individual with Ushers syndrome type 2 (Le Quesne Stabej 2012) and has also been identified in 0.06% (21/30592) South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). In addition, it has now been detected by our laboratory in cis with another pathogenic variant in the ADGRV1 gene in two individuals, which suggests that this variant is less likely to be pathogenic. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Leu3625Val variant is uncertain. In summary, while the clinical significance of the p.Leu3625Val variant is uncertain, its presence in cis with another pathogenic ADGRV1 variant suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BP2; PP3.
Blueprint Genetics RCV001075454 SCV001241077 uncertain significance Retinal dystrophy 2018-09-21 criteria provided, single submitter clinical testing

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