ClinVar Miner

Submissions for variant NM_002519.3(NPAT):c.4209A>G (p.Lys1403=)

gnomAD frequency: 0.00003  dbSNP: rs373369834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822331 SCV002064774 uncertain significance not specified 2020-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546725 SCV004264866 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing This sequence change affects codon 1403 of the NPAT mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NPAT protein. This variant is present in population databases (rs373369834, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NPAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 1337733). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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