ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.784A>G (p.Lys262Glu)

gnomAD frequency: 0.00001  dbSNP: rs1842310521
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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 RCV002022130 SCV002263462 uncertain significance Sphingolipid activator protein 1 deficiency 2021-01-07 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 262 of the PSAP protein (p.Lys262Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PSAP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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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