ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.409C>T (p.Leu137Phe)

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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 RCV005130630 SCV005751236 uncertain significance Sphingolipid activator protein 1 deficiency 2024-11-21 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 137 of the PSAP protein (p.Leu137Phe). This variant is present in population databases (rs377027316, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PSAP-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Possibly Damaging". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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