Submissions for variant NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile)

gnomAD frequency: 0.00014  dbSNP: rs201677553

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150789	SCV000198297	likely benign	not specified	2014-11-18	criteria provided, single submitter	clinical testing	p.Val5567Ile in exon 78 of GPR98 gene: This variant is not expected to have clin ical significance due to a lack of conservation across species, including mammal s. Of note, 11 mammals have an isoleucine (Ile) at this position despite high ne arby amino acid conservation. It has also been identified in 0.1% (4/3834) of A frican American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS/; dbSNP rs201677553).
Invitae	RCV001035642	SCV001198976	likely benign	not provided	2024-01-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001152167	SCV001313374	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.
Clinical Genetics, Academic Medical Center	RCV001035642	SCV001917348	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001035642	SCV001972700	likely benign	not provided		no assertion criteria provided	clinical testing