ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.626G>A (p.Arg209His)

gnomAD frequency: 0.00001  dbSNP: rs137853223
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992079 SCV001144056 pathogenic not provided 2019-07-08 criteria provided, single submitter clinical testing The best available variant frequency is uninformative because there are too few occurrences in population data. Found in at least one symptomatic patient. Conflicting predictions of the effect on the protein. Damaging to protein function(s) relevant to disease mechanism. Very strong co-segregation with disease in affected individuals from multiple families.
Invitae RCV000992079 SCV004297504 pathogenic not provided 2023-02-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 209 of the GH1 protein (p.Arg209His). This variant is present in population databases (rs137853223, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of autosomal dominant growth hormone deficiency (PMID: 17785368, 29739035, 33729509, 34006472, 34589056). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Arg183His. ClinVar contains an entry for this variant (Variation ID: 15983). 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: "Benign"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000017353 SCV000037625 pathogenic Autosomal dominant isolated somatotropin deficiency 2007-11-01 no assertion criteria provided literature only
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV000017353 SCV001482369 likely pathogenic Autosomal dominant isolated somatotropin deficiency 2019-05-31 no assertion criteria provided research
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital RCV000017353 SCV005045323 likely pathogenic Autosomal dominant isolated somatotropin deficiency 2024-02-01 no assertion criteria provided clinical testing

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