Submissions for variant NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp)

gnomAD frequency: 0.00015  dbSNP: rs148448090

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV001334846	SCV001527815	uncertain significance	Combined oxidative phosphorylation defect type 20	2018-10-19	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252364	SCV002524014	uncertain significance	See cases	2019-06-13	criteria provided, single submitter	clinical testing	ACMG classification criteria: PM2, PP3
Ambry Genetics	RCV003284213	SCV003987572	uncertain significance	Inborn genetic diseases	2023-04-07	criteria provided, single submitter	clinical testing	The c.2044C>T (p.R682W) alteration is located in exon 21 (coding exon 21) of the VARS2 gene. This alteration results from a C to T substitution at nucleotide position 2044, causing the arginine (R) at amino acid position 682 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV003324828	SCV004030985	uncertain significance	not provided	2023-08-09	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
CeGaT Center for Human Genetics Tuebingen	RCV003324828	SCV005092889	uncertain significance	not provided	2024-07-01	criteria provided, single submitter	clinical testing	VARS2: PM2:Supporting