ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)

gnomAD frequency: 0.00010  dbSNP: rs201180985
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Total submissions: 4
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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 RCV000218086 SCV000270241 likely benign not specified 2015-07-01 criteria provided, single submitter clinical testing p.Ala156Thr in exon 5 of GPR98: This variant is not expected to have clinical si gnificance because the alanine (Ala) residue at position 156 is not conserved th rough species, with >10 mammals having a threonine (Thr) at this position. In ad dition, it has been identified in 0.2% (17/7556) of South Asian chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2 01180985).
Invitae RCV001231185 SCV001403696 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000218086 SCV001984590 likely benign not specified 2020-02-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001231185 SCV003820465 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing

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