ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2636C>T (p.Ala879Val)

dbSNP: rs1555442813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623869 SCV000741909 likely pathogenic Inborn genetic diseases 2016-11-01 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267677 SCV001445913 likely pathogenic Developmental and epileptic encephalopathy 94 2019-08-29 criteria provided, single submitter clinical testing This variant has been reported as Likely Pathogenic by a clinical laboratoy in the ClinVar database (Variation ID: 521364). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.2636C>T (p.Ala879Val) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.2636C>T (p.Ala879Val) variant is classified as Likely Pathogenic.
GeneDx RCV002060689 SCV002496295 pathogenic not provided 2023-04-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31130284)

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