ClinVar Miner

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

gnomAD frequency: 0.00037  dbSNP: rs150306543
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Total submissions: 8
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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).

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