ClinVar Miner

Submissions for variant NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn)

dbSNP: rs1426575922
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329248 SCV001520630 uncertain significance Intellectual disability, X-linked 97 2019-11-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001329248 SCV003821870 uncertain significance Intellectual disability, X-linked 97 2021-08-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323859 SCV004029637 uncertain significance not specified 2023-07-18 criteria provided, single submitter clinical testing Variant summary: ZNF711 c.1744G>A (p.Asp582Asn) results in a conservative amino acid change located in one of the Zinc finger C2H2-type domains (IPR013087) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 180063 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1744G>A has been reported in the literature in an individual affected with X-Linked Intellectual Disability 97 (Alfares_2017). However, this report does not provide unequivocal conclusions about association of the variant with X-Linked Intellectual Disability 97. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 28454995). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences RCV004757407 SCV005355345 uncertain significance ZNF711-related disorder 2024-05-23 no assertion criteria provided clinical testing The ZNF711 c.1744G>A variant is predicted to result in the amino acid substitution p.Asp582Asn. This variant was reported in the hemizygous state in one individual with X-linked intellectual disability (Supplementary Table 2. Alfares et al. 2017. PubMed ID: 28454995). This variant has not been reported in gnomAD, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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