Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 |
RCV000728658 | SCV000856259 | uncertain significance | not provided | 2017-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000728658 | SCV002287893 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000728658 | SCV002599901 | uncertain significance | not provided | 2023-08-10 | 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 |
Ambry Genetics | RCV002514900 | SCV003733177 | uncertain significance | Inborn genetic diseases | 2022-03-11 | criteria provided, single submitter | clinical testing | The c.12463C>T (p.P4155S) alteration is located in exon 61 (coding exon 61) of the ADGRV1 gene. This alteration results from a C to T substitution at nucleotide position 12463, causing the proline (P) at amino acid position 4155 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |