ClinVar Miner

Submissions for variant NM_003865.3(HESX1):c.385G>A (p.Val129Ile) (rs143057250)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584901 SCV000693109 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000584901 SCV000705401 uncertain significance not provided 2017-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000258196 SCV000897137 uncertain significance Septo-optic dysplasia sequence 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000258196 SCV001308257 likely benign Septo-optic dysplasia sequence 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001317207 SCV001507856 uncertain significance Septo-optic dysplasia sequence; Growth hormone deficiency with pituitary anomalies 2020-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 129 of the HESX1 protein (p.Val129Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs143057250, ExAC 0.1%). This variant has not been reported in the literature in individuals with HESX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 267733). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Hehr Laboratory,Center for Human Genetics - University of Regensburg RCV000258196 SCV000328442 uncertain significance Septo-optic dysplasia sequence 2016-09-05 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000258196 SCV000692279 uncertain significance Septo-optic dysplasia sequence 2009-04-28 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000583982 SCV000692280 uncertain significance Pituitary hormone deficiency, combined, 1 2009-04-28 no assertion criteria provided clinical testing

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