Submissions for variant NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)

gnomAD frequency: 0.00221  dbSNP: rs140308808

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000356360	SCV000331377	benign	not specified	2016-03-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375021	SCV000426062	uncertain significance	Short-rib thoracic dysplasia 7 with or without polydactyly	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.
Illumina Laboratory Services, Illumina	RCV000280618	SCV000426063	uncertain significance	Cranioectodermal dysplasia 2	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.
Genetic Services Laboratory, University of Chicago	RCV000356360	SCV000597947	uncertain significance	not specified	2015-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000767100	SCV000617020	likely benign	not provided	2021-05-19	criteria provided, single submitter	clinical testing
Invitae	RCV001085930	SCV001021773	likely benign	Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly	2024-01-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003909905	SCV004722939	likely benign	WDR35-related condition	2021-02-22	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).