ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) (rs201434271)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000859793 SCV000653827 benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000531921 SCV000898783 uncertain significance Mental retardation, X-linked 98 2018-07-09 criteria provided, single submitter clinical testing KIAA2022 NM_001008537.2 exon 3 p.Ser1275Gly (c.3823A>G): This variant has not been reported in the literature but is present in 35/90212 European alleles, including 19 hemizygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs201434271). This variant is present in ClinVar (Variation ID: 474073). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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