ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile)

gnomAD frequency: 0.00002  dbSNP: rs768299251
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Total submissions: 3
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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 RCV000615108 SCV000712407 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing p.Thr5240Ile in exon 74 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, elephants and aardvarks have a threonine (Thr) at this position despite h igh nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has been identifie d in 2/11552 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org)
GeneDx RCV002509465 SCV002818973 uncertain significance not provided 2022-07-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002509465 SCV003289405 likely benign not provided 2023-08-30 criteria provided, single submitter clinical testing

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