ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=)

gnomAD frequency: 0.00097  dbSNP: rs371450118
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117283 SCV000151457 uncertain significance not provided 2013-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000422406 SCV000524169 benign not specified 2016-03-14 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 RCV001086642 SCV000649580 benign Intellectual disability, X-linked 1 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312142 SCV000847205 benign Inborn genetic diseases 2016-07-14 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.
PreventionGenetics, part of Exact Sciences RCV004752748 SCV005352561 benign IQSEC2-related disorder 2024-05-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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