ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs576429729
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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 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).
Eurofins NTD LLC (GA) RCV000728658 SCV000856259 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing
Invitae RCV000728658 SCV002287893 uncertain significance not provided 2021-11-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 4155 of the ADGRV1 protein (p.Pro4155Ser). This variant is present in population databases (rs576429729, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 163605). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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