ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.1712T>C (p.Val571Ala)

gnomAD frequency: 0.00001  dbSNP: rs1251757430
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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 RCV001943591 SCV002196528 uncertain significance Infantile spasms 2024-06-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 571 of the PIK3AP1 protein (p.Val571Ala). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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: 1420623). 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 tolerated. 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 RCV004044072 SCV003975463 uncertain significance not specified 2023-04-08 criteria provided, single submitter clinical testing The c.1712T>C (p.V571A) alteration is located in exon 11 (coding exon 11) of the PIK3AP1 gene. This alteration results from a T to C substitution at nucleotide position 1712, causing the valine (V) at amino acid position 571 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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