ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1185T>C (p.Ser395=)

gnomAD frequency: 0.00001  dbSNP: rs763863353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002594454 SCV002957861 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing 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 sequence change affects codon 395 of the TYR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TYR protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs763863353, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TYR-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.

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