Submissions for variant NM_025132.4(WDR19):c.2742T>C (p.Ala914=)

gnomAD frequency: 0.00004  dbSNP: rs753812144

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756916	SCV000884900	likely benign	not provided	2018-04-12	criteria provided, single submitter	clinical testing	The c.2742T>C; p.Ala914Ala variant (rs753812144) does not alter the amino acid sequence of the WDR19 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with skeletal dysplasias in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.003% (identified on 8 out of 262,984 chromosomes). Based on the available information, the c.2742T>C variant is likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001455522	SCV001659284	likely benign	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002485961	SCV002796584	likely benign	Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72	2022-04-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000756916	SCV005257293	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004540080	SCV004774231	likely benign	WDR19-related disorder	2019-07-12	no assertion criteria provided	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).