ClinVar Miner

Submissions for variant NM_002907.4(RECQL):c.1661A>G (p.Tyr554Cys)

gnomAD frequency: 0.00001  dbSNP: rs544884266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433752 SCV001636548 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038322 SCV002703293 likely benign not specified 2020-09-13 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.
GeneDx RCV001433752 SCV003836899 uncertain significance not provided 2023-10-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; 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: 23396353, 27248010, 19151156)

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