ClinVar Miner

Submissions for variant NM_198252.3(GSN):c.1802G>A (p.Arg601His)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002421605 SCV002722057 uncertain significance Inborn genetic diseases 2022-06-29 criteria provided, single submitter clinical testing The p.R652H variant (also known as c.1955G>A), located in coding exon 14 of the GSN gene, results from a G to A substitution at nucleotide position 1955. The arginine at codon 652 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100957 SCV002951650 uncertain significance not provided 2024-07-01 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 652 of the GSN protein (p.Arg652His). This variant is present in population databases (no rsID available, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with GSN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1783296). 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 expected to disrupt GSN protein function with a positive predictive value of 80%. 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.
CeGaT Center for Human Genetics Tuebingen RCV003100957 SCV005093207 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042829 SCV005677678 uncertain significance Finnish type amyloidosis 2024-01-03 criteria provided, single submitter clinical testing

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