ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.855G>A (p.Ala285=)

gnomAD frequency: 0.00099  dbSNP: rs138796857
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420795 SCV000526765 benign not specified 2016-08-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000530371 SCV000654352 benign Developmental and epileptic encephalopathy 94 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318454 SCV000850674 benign Inborn genetic diseases 2017-05-23 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000420795 SCV005204246 likely benign not specified 2024-06-14 criteria provided, single submitter clinical testing

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