ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9255C>G (p.Phe3085Leu)

dbSNP: rs727503077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150765 SCV000198251 likely benign not specified 2014-08-19 criteria provided, single submitter clinical testing Phe3085Leu in exon 43 of GPR98: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, guinea pig, chinchilla, flying fox, and megabat have a leucine (Leu) at t his position despite high nearby amino acid conservation. In addition, computati onal prediction tools do not suggest a high likelihood of impact to the protein.

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