ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.875A>T (p.Tyr292Phe)

gnomAD frequency: 0.00001  dbSNP: rs903471733
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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 RCV001369641 SCV001566085 uncertain significance Infantile spasms 2024-03-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 292 of the PIK3AP1 protein (p.Tyr292Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIK3AP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1060242). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004037087 SCV005004025 uncertain significance not specified 2023-09-20 criteria provided, single submitter clinical testing The c.875A>T (p.Y292F) alteration is located in exon 6 (coding exon 6) of the PIK3AP1 gene. This alteration results from a A to T substitution at nucleotide position 875, causing the tyrosine (Y) at amino acid position 292 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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