ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.1765C>T (p.Pro589Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002628585 SCV003514923 uncertain significance Infantile spasms 2022-05-10 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PIK3AP1-related conditions. This variant is present in population databases (rs756599355, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 589 of the PIK3AP1 protein (p.Pro589Ser).
Ambry Genetics RCV004661592 SCV005153654 uncertain significance not specified 2024-05-23 criteria provided, single submitter clinical testing The c.1765C>T (p.P589S) alteration is located in exon 12 (coding exon 12) of the PIK3AP1 gene. This alteration results from a C to T substitution at nucleotide position 1765, causing the proline (P) at amino acid position 589 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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