ClinVar Miner

Submissions for variant NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) (rs754137696)

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Total submissions: 3
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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 2020-06-12 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with glycine at codon 105 of the HESX1 protein (p.Trp105Gly). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and glycine. This variant is present in population databases (rs754137696, ExAC 0.2%). This variant has not been reported in the literature in individuals with HESX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 492850). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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.
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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