Submissions for variant NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)

dbSNP: rs34666647

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000121948	SCV000248689	uncertain significance	not specified	2015-07-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079354	SCV000288252	benign	Baller-Gerold syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000121948	SCV000332632	likely benign	not specified	2016-06-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000232650	SCV001155568	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RECQL4: BP4
GeneDx	RCV000232650	SCV001865208	benign	not provided	2020-01-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15897384, 30007837, 12734318, 24728327)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000232650	SCV002009904	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255302	SCV002528308	likely benign	Hereditary cancer-predisposing syndrome	2021-05-25	criteria provided, single submitter	curation
Ambry Genetics	RCV002515890	SCV003556403	likely benign	Inborn genetic diseases	2021-05-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	RCV003330083	SCV004037339	uncertain significance	Rothmund-Thomson syndrome type 2	2019-10-16	criteria provided, single submitter	clinical testing	The paternally inherited c.3062G>A variant is a single base pair substitution at nucleotide c.3062 in the exon (19 of 22) of the RECQL4 gene, resulting in the substitution of arginine to glutamine at amino acid position 1021 (1209 in total). This variant is present in the Genome Aggregation Database (gnomAD) with a general frequency of 0.004 (1125/278178, 1 HOMO), indicating it is not a rare variant in the populations represented in this database. This variant is predicted to be tolerated by multiple in silico tools. In Clinvar, this variant has been reported several times with conflicting level of evidence [Benign/Likely Benign/ Variant of Uncertain Significance]. In literature, this R1021Q variant has been observed in a single heterozygous state or with another truncation variant in individual with features of Rothmund-Thomson Syndrome, however this variant has not been established as disease-causing [PMID:12734318;PMID:30007837]. Based on these evidences, the c.3062C>G p.Arg1021Gln variant is classified as Variant of Uncertain Significance (VUS).
ITMI	RCV000121948	SCV000086155	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000232650	SCV001798702	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000232650	SCV001809121	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000232650	SCV001931146	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000232650	SCV001969598	likely benign	not provided		no assertion criteria provided	clinical testing