ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys)

gnomAD frequency: 0.00002  dbSNP: rs957057964
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591768 SCV000702288 uncertain significance not provided 2016-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317334 SCV000851333 likely benign Inborn genetic diseases 2017-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001294399 SCV001483277 benign Intellectual disability, X-linked 1 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000591768 SCV001896289 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)

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