ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) (rs371947306)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150788 SCV000198296 benign not specified 2015-03-02 criteria provided, single submitter clinical testing p.Gln5459His in exon 77 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.7% (120/16090) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org). In addition, the Gln5459 residue is not highly conserved across species, including mammals. Of note, tree shrew has a histidine (His) at this position de spite high nearby amino acid conservation. In addition, computational analyses ( PolyPhen2, SIFT, AlignGVGD) predict that the variant may not impact the protein. The variant has been identified in the heterozygous state in one individual wit h Usher syndrome; however this individual carried a homozygous pathogenic varian t in another gene which explained his clinical manifestations (Bonnet 2011).
GeneDx RCV000887932 SCV000521012 benign not provided 2020-07-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30245029, 21569298)
Invitae RCV000887932 SCV001031526 benign not provided 2020-10-07 criteria provided, single submitter clinical testing
Mendelics RCV000987542 SCV001136858 benign Usher syndrome, type 2C 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987542 SCV001319227 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.
GeneReviews RCV000217534 SCV000268769 likely pathogenic Usher syndrome type 1 2016-05-19 no assertion criteria provided literature only

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