ClinVar Miner

Submissions for variant NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)

gnomAD frequency: 0.00004  dbSNP: rs121917883
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623182 SCV000741917 likely pathogenic Inborn genetic diseases 2016-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001572673 SCV003525387 uncertain significance not provided 2024-04-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 204 of the GHSR protein (p.Ala204Glu). This variant is present in population databases (rs121917883, gnomAD 0.005%). This missense change has been observed in individual(s) with GFSR-related conditions (PMID: 14715843, 16511605, 25557026). ClinVar contains an entry for this variant (Variation ID: 7632). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GHSR protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects GHSR function (PMID: 16511605, 17596538, 17717076, 21084395). 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 RCV000008071 SCV000028276 pathogenic Short stature due to growth hormone secretagogue receptor deficiency 2006-03-01 no assertion criteria provided literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572673 SCV001797405 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001572673 SCV001953157 likely pathogenic not provided no assertion criteria provided clinical testing

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