Submissions for variant NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr)

gnomAD frequency: 0.00016  dbSNP: rs148776624

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514042	SCV001721787	benign	not provided	2023-12-11	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University Hospital Muenster	RCV004584371	SCV002577864	uncertain significance	See cases	2021-12-07	criteria provided, single submitter	clinical testing	ACMG categories: PM1,BP6
Neuberg Centre For Genomic Medicine, NCGM	RCV000191944	SCV005060880	uncertain significance	Moyamoya disease 2		criteria provided, single submitter	clinical testing	The missense variant c.14195A>C(p.Lys4732Thr) in RNF213 gene has been reported in individuals affected with susceptibility to moyamoya disease 2 (Jang et. al., 2017; Alana C et. al., 2014). The observed variant is a polymorphic variant having allele frequency of 0.07% in gnomAD exomes database. This variant has been submitted to the ClinVar database as Benign / Uncertain Significance (VUS). The amino acid change p.Lys4732Thr in RNF213 is predicted as conserved by PhyloP across 100 vertebrates. The amino acid Lys at position 4732 is changed to a Thr changing protein sequence and it might alter its composition and physicochemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).
CeGaT Center for Human Genetics Tuebingen	RCV001514042	SCV005093541	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RNF213: BP4, BS2
Department of Internal Medicine, University of Texas Health Science Center at Houston	RCV000191944	SCV000246191	uncertain significance	Moyamoya disease 2	2014-09-08	no assertion criteria provided	research