ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.330+5G>A

dbSNP: rs1569646997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819483 SCV000960147 pathogenic Reticular dysgenesis 2022-08-16 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with reticular dysgenesis (PMID: 32532877). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the AK2 gene. It does not directly change the encoded amino acid sequence of the AK2 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. ClinVar contains an entry for this variant (Variation ID: 661953). For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 3, but is expected to preserve the integrity of the reading-frame (PMID: 32532877).
Ambry Genetics RCV000819483 SCV001244679 pathogenic Reticular dysgenesis 2019-04-10 criteria provided, single submitter clinical testing

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