Total submissions: 5
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, |
RCV000017353 | SCV001482369 | likely pathogenic | Autosomal dominant isolated somatotropin deficiency | 2019-05-31 | no assertion criteria provided | research | |
Department of Pediatrics, |
RCV000017353 | SCV005045323 | likely pathogenic | Autosomal dominant isolated somatotropin deficiency | 2024-02-01 | no assertion criteria provided | clinical testing |