ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=)

gnomAD frequency: 0.02162  dbSNP: rs61745228
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117281 SCV000523086 benign not specified 2016-02-01 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.
Invitae RCV001081112 SCV000649568 benign Intellectual disability, X-linked 1 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712005 SCV000842418 benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312141 SCV000845971 benign Inborn genetic diseases 2016-04-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Genetic Services Laboratory, University of Chicago RCV000117281 SCV000151455 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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