ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11999C>T (p.Thr4000Met)

gnomAD frequency: 0.00001  dbSNP: rs758506587
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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, Mass General Brigham Personalized Medicine RCV000612353 SCV000731531 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing p.Thr4000Met in exon 58 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, more than 10 mammals (including gibbon, elephant, and cape elephant shrew ) have a methionine (Met) at this position despite high nearby amino acid conser vation. In addition, computational prediction tools do not suggest a high likeli hood of impact to the protein. It has been identified in 3/16124 of East Asian c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org; dbSNP rs758506587).
Invitae RCV002528775 SCV002970385 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing

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