Submissions for variant NM_004260.4(RECQL4):c.20T>G (p.Val7Gly)

gnomAD frequency: 0.00003  dbSNP: rs781721739

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000466943	SCV000545936	uncertain significance	Baller-Gerold syndrome	2022-09-27	criteria provided, single submitter	clinical testing	This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 7 of the RECQL4 protein (p.Val7Gly). This variant is present in population databases (rs781721739, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 406965). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics	RCV000764771	SCV000895909	uncertain significance	Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome	2018-10-31	criteria provided, single submitter	clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	RCV002291629	SCV002584542	uncertain significance	Rothmund-Thomson syndrome type 2	2022-08-10	criteria provided, single submitter	clinical testing	The RECQL4 c.20T>G (p.Val7Gly) missense change has a maximum subpopulation frequency of 0.015% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In silico tools are inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with RECQL4-associated conditions. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Ambry Genetics	RCV004955501	SCV005487030	uncertain significance	Inborn genetic diseases	2024-12-02	criteria provided, single submitter	clinical testing	The c.20T>G (p.V7G) alteration is located in exon 1 (coding exon 1) of the RECQL4 gene. This alteration results from a T to G substitution at nucleotide position 20, causing the valine (V) at amino acid position 7 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729601	SCV001978010	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001729601	SCV001979771	likely benign	not provided		no assertion criteria provided	clinical testing