Submissions for variant NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)

gnomAD frequency: 0.00037  dbSNP: rs150306543

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV003492146	SCV000838651	likely benign	Hereditary cancer	2024-01-23	criteria provided, single submitter	clinical testing
Molecular Oncology Research Center, Barretos Cancer Hospital	RCV001374530	SCV001438673	uncertain significance	Hereditary breast ovarian cancer syndrome	2020-08-01	criteria provided, single submitter	research
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262455	SCV001440338	likely benign	Seizure	2019-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001494287	SCV001698939	likely benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001494287	SCV001801130	uncertain significance	not provided	2024-11-07	criteria provided, single submitter	clinical testing	Observed in individuals with breast (male and female) and/or ovarian cancer, but also in unaffected controls (PMID: 25915596, 30613976, 32546565); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868); This variant is associated with the following publications: (PMID: 26455304, 30613976, 25915596, 27377421, 32546565, 19151156, 27248010, Carpenter2024[computational], 38633426)
Ambry Genetics	RCV002477639	SCV002619648	benign	not specified	2020-06-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002477639	SCV002773954	benign	not specified	2021-06-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945728	SCV004761727	likely benign	RECQL-related disorder	2022-04-15	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).