ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.636_*791del (p.Ala212_Ter240delinsXaa) (rs1570186429)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814289 SCV000954692 uncertain significance Reticular dysgenesis 2018-11-12 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 6, and extending to the 3' untranslated region of the AK2 gene (c.636_*4954del). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant is not present in population databases (ExAC no frequency). A similar variant (c.636_*2601del) has been observed to be homozygous in an individual affected with reticular dysgenesis (PMID: 19043417). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. 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.

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