ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe)

gnomAD frequency: 0.00001  dbSNP: rs143599552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482576 SCV000574224 uncertain significance not provided 2024-06-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Friez2014[Thesis])
Fulgent Genetics, Fulgent Genetics RCV000766099 SCV000897577 uncertain significance Intellectual disability, X-linked syndromic, Turner type 2018-10-31 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV000766099 SCV004177001 uncertain significance Intellectual disability, X-linked syndromic, Turner type 2023-07-17 criteria provided, single submitter clinical testing The HUWE1 c.12860C>T (p.Ser4287Phe) variant, to our knowledge, has not been reported in the medical literature but has been reported in the ClinVar database as a germline variant of uncertain significance by two submitters. This variant is absent from the general population (gnomAD v.2.1.1), but is observed on 1/10,563 alleles in the ESP 6500, indicating it is not a common variant. Computational predictors are uncertain as to the impact of this variant on HUWE1 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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