Submissions for variant NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)

gnomAD frequency: 0.00275  dbSNP: rs187546086

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723861	SCV000203804	uncertain significance	not provided	2014-04-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000278329	SCV000449412	likely benign	Asphyxiating thoracic dystrophy 5	2018-01-12	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000317115	SCV000449413	likely benign	Cranioectodermal dysplasia 4	2018-01-12	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000154140	SCV000597943	likely benign	not specified	2015-10-15	criteria provided, single submitter	clinical testing
Invitae	RCV001083264	SCV000775129	benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000723861	SCV001158798	uncertain significance	not provided	2023-09-12	criteria provided, single submitter	clinical testing	The WDR19 c.2792A>C; p.Tyr931Ser variant (rs187546086), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 167843). This variant is found in the general population with an overall allele frequency of 0.27% (768/280184 alleles, including a single homozygote) in the Genome Aggregation Database. The tyrosine at codon 931 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.308). Due to limited information, the clinical significance of the p.Tyr931Ser variant is uncertain at this time.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277304	SCV002567162	uncertain significance	Connective tissue disorder	2021-03-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516102	SCV003671888	uncertain significance	Inborn genetic diseases	2022-11-18	criteria provided, single submitter	clinical testing	The c.2792A>C (p.Y931S) alteration is located in exon 25 (coding exon 25) of the WDR19 gene. This alteration results from a A to C substitution at nucleotide position 2792, causing the tyrosine (Y) at amino acid position 931 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	RCV004532742	SCV004739304	likely benign	WDR19-related disorder	2019-05-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000723861	SCV001799170	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154140	SCV001925398	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723861	SCV001967561	likely benign	not provided		no assertion criteria provided	clinical testing