ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.726G>C (p.Glu242Asp)

gnomAD frequency: 0.00006  dbSNP: rs45588036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000009170 SCV002526686 uncertain significance Short stature due to partial GHR deficiency 2022-05-17 criteria provided, single submitter clinical testing Criteria applied: PS4_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV002512935 SCV003525721 uncertain significance not provided 2022-01-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 242 of the GHR protein (p.Glu242Asp). This variant is present in population databases (rs45588036, gnomAD 0.008%). This missense change has been observed in individual(s) with growth hormone insensitivity (PMID: 7565946). This variant is also known as p.Glu224Asp. ClinVar contains an entry for this variant (Variation ID: 8638). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
OMIM RCV000009170 SCV000029387 pathogenic Short stature due to partial GHR deficiency 1995-10-26 no assertion criteria provided literature only

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