ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.279G>A (p.Lys93=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003460149 SCV004196049 uncertain significance Somatotroph adenoma 2022-06-16 criteria provided, single submitter clinical testing
Invitae RCV003565674 SCV004317421 uncertain significance not provided 2023-05-31 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. This variant has not been reported in the literature in individuals affected with AIP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 93 of the AIP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AIP protein. This variant also falls at the last nucleotide of exon 2, which is part of the consensus splice site for this exon.

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