ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs) (rs1556016529)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551271 SCV000653811 pathogenic Mental retardation, X-linked 98 2017-04-27 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides and inserts 2 nucleotides in exon 3 of the KIAA2022 mRNA (c.2166_2168delinsAC), causing a frameshift at codon 722. This creates a premature translational stop signal (p.Phe722Leufs*7) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in KIAA2022 are known to be pathogenic (PMID: 27358180, 23615299). For these reasons, this variant has been classified as Pathogenic.

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