ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.1517T>A (p.Leu506His)

gnomAD frequency: 0.00001  dbSNP: rs1285143382
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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 RCV001874665 SCV002129791 uncertain significance Infantile spasms 2023-04-17 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 missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1369471). This variant has not been reported in the literature in individuals affected with PIK3AP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 506 of the PIK3AP1 protein (p.Leu506His).

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