ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) (rs199587998)

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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, Partners HealthCare Personalized Medicine RCV000150755 SCV000198213 likely benign not specified 2016-01-07 criteria provided, single submitter clinical testing p.Gln613Lys in exon 9 of GPR98: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, 7 mammals (cat, dog, panda, ferret, Pacific walrus, Weddell seal, and star- nosed mole) have a lysine (Lys) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has also been identified in 0.2% (110/64 552) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs199587998).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725188 SCV000334779 uncertain significance not provided 2015-08-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000150755 SCV000602448 uncertain significance not specified 2018-12-19 criteria provided, single submitter clinical testing The ADGRV1 c.1837C>A; p.Gln613Lys variant (rs199587998), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 163564). This variant is found in the non-Finnish European population with an overall allele frequency of 0.15% (191/123646 alleles) in the Genome Aggregation Database. The glutamine at codon 613 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Gln613Lys variant is uncertain at this time.
Invitae RCV000725188 SCV001032048 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152888 SCV001314126 uncertain significance Usher syndrome, type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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