ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) (rs188772875)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039574 SCV000063263 uncertain significance not specified 2013-08-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Tyr1170Cys vari ant in GPR98 has not been previously identified by our laboratory but has been i dentified in 0.16% (13/8284) of European American chromosomes in a broad populat ion by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; db SNP rs188772875). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational a nalyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Tyr1170Cys variant may impact the normal function of the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of this variant cannot be determ ined with certainty; however, based upon identification in controls and lack of reports in affected individuals, we would lean towards a more likely benign role .
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514418 SCV000337029 uncertain significance not provided 2016-06-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514418 SCV000610704 uncertain significance not provided 2017-09-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514418 SCV000840667 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764614 SCV000895721 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000514418 SCV001201759 uncertain significance not provided 2019-12-28 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1170 of the ADGRV1 protein (p.Tyr1170Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs188772875, ExAC 0.1%). This variant has not been reported in the literature in individuals with ADGRV1-related disease. ClinVar contains an entry for this variant (Variation ID: 46318). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Illumina Clinical Services Laboratory,Illumina RCV001155118 SCV001316527 uncertain significance Usher syndrome, type 2C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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