Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215523 | SCV000271815 | uncertain significance | not specified | 2015-02-04 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Asn600Ser var iant in GPR98 has not been previously reported in individuals with hearing loss and was absent from large population studies. The asparagine (Asn) at position 6 00 is not conserved in mammals or evolutionary distant species, with Brush-taile d rat and two bird species having a serine (Ser), raising the possibility that a change at this position may be tolerated. Additional computational prediction t ools do not provide strong support for or against an impact to the protein. In s ummary, while the clinical significance of the Asn600Ser variant is uncertain, t he conservation data suggest that it is more likely to be benign. |
Invitae | RCV002519632 | SCV003259063 | likely benign | not provided | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003343710 | SCV004066709 | uncertain significance | Inborn genetic diseases | 2023-07-12 | criteria provided, single submitter | clinical testing | The c.1799A>G (p.N600S) alteration is located in exon 9 (coding exon 9) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 1799, causing the asparagine (N) at amino acid position 600 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003422120 | SCV004117343 | uncertain significance | ADGRV1-related condition | 2022-12-16 | criteria provided, single submitter | clinical testing | The ADGRV1 c.1799A>G variant is predicted to result in the amino acid substitution p.Asn600Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-89925316-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |