ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter)

gnomAD frequency: 0.00001  dbSNP: rs199998249
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001966488 SCV002252929 likely pathogenic Neu-Laxova syndrome 2 2022-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu326*) in the PSAT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the PSAT1 protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the PSAT1 protein. Other variant(s) that disrupt this region (p.Arg342Aspfs*6) have been observed in individuals with PSAT1-related conditions (PMID: 25152457). This suggests that this may be a clinically significant region of the protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1467660). This variant has not been reported in the literature in individuals affected with PSAT1-related conditions. This variant is present in population databases (rs199998249, gnomAD 0.003%).

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