ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser) (rs576429729)

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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,Partners HealthCare Personalized Medicine RCV000150781 SCV000198279 likely benign not specified 2017-06-26 criteria provided, single submitter clinical testing p.Pro4155Ser in exon 61 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, six mammals (gibbon, prairie vole, Chinese hamster, golden hamster, mouse , and rat) have a Serine (Ser) at this position despite high nearby amino acid c onservation, supporting that this change is tolerated. Other computational predi ction tools also suggest this variant may not impact the protein. It has also be en identified in 0.1% (21/18822) of East Asian chromosomes by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs576429729).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728658 SCV000856259 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing

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