ClinVar Miner

Submissions for variant NM_198252.3(GSN):c.885A>G (p.Lys295=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002512386 SCV002821962 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing GSN: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002512386 SCV002987950 uncertain significance not provided 2022-07-21 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. This variant has not been reported in the literature in individuals affected with GSN-related conditions. This variant is present in population databases (rs779756580, gnomAD 0.0009%). This sequence change affects codon 346 of the GSN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GSN protein. It affects a nucleotide within the consensus splice site.
Fulgent Genetics, Fulgent Genetics RCV005042859 SCV005677968 likely benign Finnish type amyloidosis 2024-01-23 criteria provided, single submitter clinical testing

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