ClinVar Miner

Submissions for variant NM_003865.3(HESX1):c.200G>A (p.Ser67Asn)

dbSNP: rs141863326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003767318 SCV004581511 uncertain significance Septo-optic dysplasia sequence; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES 2023-05-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HESX1-related conditions. This variant is present in population databases (rs141863326, gnomAD 0.06%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 67 of the HESX1 protein (p.Ser67Asn). ClinVar contains an entry for this variant (Variation ID: 492847). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
GeneDx RCV004722957 SCV005333297 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583330 SCV000692271 uncertain significance Septo-optic dysplasia sequence 2011-09-15 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000584570 SCV000692272 uncertain significance Pituitary hormone deficiency, combined, 1 2011-09-15 no assertion criteria provided clinical testing

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