ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.1445C>T (p.Pro482Leu)

dbSNP: rs2066586691
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272780 SCV002556975 uncertain significance Intellectual disability, X-linked syndromic, Turner type 2020-10-29 criteria provided, single submitter clinical testing The HUWE1 c.1445C>T missense variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE (PM2, PP3) The HUWE1 c.1445C>T missense variant is a single nucleotide change in exon 17 of the HUWE1 gene, which is predicted to change the amino acid proline at position 482 in the protein to leucine. This variant has not been reported in dbSNP and is absent from population databases (PM2). This variant has not been reported in the ClinVar of HGMD disease databases. Computational predictions support a deleterious effect on the gene or gene product (PP3).

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