Submissions for variant NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)

dbSNP: rs1565669640

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon	RCV000760248	SCV000890082	likely pathogenic	Lamb-Shaffer syndrome	2017-05-15	criteria provided, single submitter	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000760248	SCV001448923	pathogenic	Lamb-Shaffer syndrome	2019-07-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001528357	SCV001777127	pathogenic	not provided	2022-10-10	criteria provided, single submitter	clinical testing	Published functional studies demonstrate R571W damages normal SOX5 function (Zawerton et al., 2020); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31578471, 32959227, 31785789)
Institute for Human Genetics, University Hospital Essen	RCV000760248	SCV000999894	pathogenic	Lamb-Shaffer syndrome	2019-08-05	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528357	SCV001739987	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528357	SCV001964746	uncertain significance	not provided		no assertion criteria provided	clinical testing
Molecular Genetics laboratory, Necker Hospital	RCV001528357	SCV004031278	pathogenic	not provided	2021-12-22	no assertion criteria provided	clinical testing