Submissions for variant NM_020779.4(WDR35):c.1227A>G (p.Thr409=)

gnomAD frequency: 0.00059  dbSNP: rs148828104

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000317233	SCV000335800	uncertain significance	not provided	2015-10-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000317233	SCV002049189	uncertain significance	not provided	2021-10-11	criteria provided, single submitter	clinical testing	The WDR35 c.1260A>G; p.Thr420= variant (rs148828104) to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 283601). This variant is found in the African population with an allele frequency of 0.2% (45/24,854 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site that is as strong as the native donor splice site downstream. Due to limited information, the clinical significance of the p.Thr420= variant is uncertain at this time.
Invitae	RCV002059130	SCV002380161	likely benign	Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly	2021-11-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003909951	SCV004718483	likely benign	WDR35-related condition	2022-01-27	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).