ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8300C>T (p.Thr2767Ile)

dbSNP: rs1554088550
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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 RCV000606359 SCV000713509 likely benign not specified 2017-08-25 criteria provided, single submitter clinical testing p.Thr2767Ile in exon 36 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 4 mammals (sheep, domestic goat, bat and big brown bat) have an isoleucin e (Ile) at this position despite high nearby amino acid conservation. In additio n, computational prediction tools do not suggest a high likelihood of impact to the protein.

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