ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.854A>G (p.Gln285Arg)

gnomAD frequency: 0.00001  dbSNP: rs1440323214
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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 RCV000652066 SCV000773934 uncertain significance Infantile spasms 2020-02-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 541744). 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 missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIK3AP1-related disease. ClinVar contains an entry for this variant (Variation ID: 541744). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 285 of the PIK3AP1 protein (p.Gln285Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.

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