ClinVar Miner

Submissions for variant NM_003865.3(HESX1):c.313T>G (p.Trp105Gly)

gnomAD frequency: 0.00001  dbSNP: rs754137696
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298588 SCV001487649 uncertain significance Septo-optic dysplasia sequence; Growth hormone deficiency with pituitary anomalies 2023-09-17 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 105 of the HESX1 protein (p.Trp105Gly). This variant is present in population databases (rs754137696, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with HESX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 492850). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV002248803 SCV002517177 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583407 SCV000692277 pathogenic Septo-optic dysplasia sequence 2008-06-03 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581469 SCV000692278 pathogenic Pituitary hormone deficiency, combined, 1 2008-06-03 no assertion criteria provided clinical testing

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