ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs576429729
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Total submissions: 5
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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 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
GeneDx 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.

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