ClinVar Miner

Submissions for variant NM_006265.3(RAD21):c.1852A>G (p.Ser618Gly)

dbSNP: rs1554610467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518887 SCV000621483 uncertain significance not provided 2019-12-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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 RCV000678279 SCV000804335 uncertain significance Cornelia de Lange syndrome 4 2017-10-26 criteria provided, single submitter provider interpretation This 13 year old male has a history of autism spectrum disorder, ADHD, myopia, sleep issues, anxiety, and epistaxis. The c.1852A>G variant was inherited from this patient's father. The variant has not been reported in population databases (ExAC and gnomAD). A different missense variant at the same amino acid residue has been reported in one individual from the Latino population (frequency of 0.0029%). Computional models are inconsistent. The patient's father does not have a history of neurodevelopmental concerns.

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