ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.249+13G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003115018 SCV003785868 uncertain significance Sphingolipid activator protein 1 deficiency 2022-07-20 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with PSAP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the PSAP gene. It does not directly change the encoded amino acid sequence of the PSAP protein.

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