ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr)

dbSNP: rs1554618664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522698 SCV000619916 uncertain significance not provided 2019-10-10 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 a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25724810, 22426309, 22426308, 22366787)
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678344 SCV000804408 uncertain significance Coffin-Siris syndrome 1; Nicolaides-Baraitser syndrome 2017-11-08 criteria provided, single submitter provider interpretation This 5 year old female with mild global developmental delays, cerebral ventriculomegaly, and hypotonia carries a missense variant in the gene SMARCA2. Inheritance is currently unknown as her father is unavailable to provide a sample; he is reported to have an intellectual disability but no physical abnormalities. Clinical correlation is felt to be poor, as she does not have the majority of the common features of Coffin-Siris or Nicolaides-Baraitser syndromes. Of note, she has hypoplastic nails on her fifth toes, which is seen in Coffin-Siris syndrome. The p.Ala414Thr variant is absent from population databases and has not been reported previously in affected individuals, to our knowledge. Computational models predict the variant to be probably damaging. The variant is currently considered to be of uncertain significance.

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