Submissions for variant NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)

gnomAD frequency: 0.00024  dbSNP: rs200629599

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175184	SCV000226625	likely benign	not specified	2015-03-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000465514	SCV000557751	benign	Baller-Gerold syndrome	2025-01-28	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001292700	SCV001481318	uncertain significance	Rothmund-Thomson syndrome type 2	2020-12-22	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV002056931	SCV002495919	uncertain significance	Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2	2021-03-04	criteria provided, single submitter	clinical testing	RECQL4 NM_004260.3 exon 17 Val985Met (c.2953G>A): This variant has not been reported in the literature but is present in 0.1% (19/15286) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/8-144512494-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:194743). This variant amino acid Methionine (Met) is present in 6 mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001292700	SCV004017300	likely benign	Rothmund-Thomson syndrome type 2	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537376	SCV004743297	likely benign	RECQL4-related disorder	2023-09-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).