ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser)

gnomAD frequency: 0.00001  dbSNP: rs876657823
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Total submissions: 4
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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 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.
PreventionGenetics, part of Exact Sciences 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.

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