ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.1669G>A (p.Val557Ile)

dbSNP: rs1843157949
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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 RCV001044181 SCV001207963 uncertain significance Infantile spasms 2023-03-24 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. ClinVar contains an entry for this variant (Variation ID: 841869). This variant has not been reported in the literature in individuals affected with PIK3AP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 557 of the PIK3AP1 protein (p.Val557Ile). This variant also falls at the last nucleotide of exon 10, which is part of the consensus splice site for this exon.

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