ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn)

dbSNP: rs1325394060
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital RCV000498975 SCV000503019 likely pathogenic Intellectual disability, X-linked syndromic, Turner type 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001799660 SCV002044249 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); 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: 32336296, 29180823)
Invitae RCV001799660 SCV003217922 likely pathogenic not provided 2022-08-06 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HUWE1 protein function. ClinVar contains an entry for this variant (Variation ID: 375724). This missense change has been observed in individuals with X-linked intellectual disability (PMID: 29180823; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 4295 of the HUWE1 protein (p.Lys4295Asn).

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