ClinVar Miner

Submissions for variant NM_006265.3(RAD21):c.1349G>A (p.Arg450His)

gnomAD frequency: 0.00001  dbSNP: rs1051321465
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000952130 SCV000583067 likely benign not provided 2018-12-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678348 SCV000804412 uncertain significance Cornelia de Lange syndrome 4 2017-05-26 criteria provided, single submitter provider interpretation This 9 year old female with an intellectual disability was found to carry a missense variant in the RAD21 gene. Inheritance is unknown, as is paternal family history. She is non-dysmorphic, normocephalic, and does not have any congenital anomalies. While variable expressivity has been noted in some individuals with Cornelia de Lange Syndrome 4, this patient's lack of growth retardation, skeletal anomalies, and facial dysmorphism make it more unlikely that this is a causative variant for her intellectual disability. The variant is absent from population databases and has not been reported in any individuals with Cornelia de Lange syndrome, to our knowledge. Computational prediction models are inconsistent.
Labcorp Genetics (formerly Invitae), Labcorp RCV000678348 SCV001098605 likely benign Cornelia de Lange syndrome 4 2024-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383949 SCV002689917 likely benign Inborn genetic diseases 2019-11-13 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.

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