ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro)

dbSNP: rs1216179072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678324 SCV000804385 uncertain significance X-linked intellectual disability, Cantagrel type 2017-06-02 criteria provided, single submitter provider interpretation This variant was identified in a 3 year old male with autism spectrum disorder, developmental delays, sleep problems, and pica. This missense variant is absent from the gnomAD database and computational prediction models are inconsistent. This variant has not been reported previously in the literature, to our knowledge. This gene is not constrained for missense variation and missense variants have not been widely reported as disease-causing for this gene.
Ambry Genetics RCV004026152 SCV000851163 uncertain significance not specified 2024-05-14 criteria provided, single submitter clinical testing The c.2605T>C (p.S869P) alteration is located in exon 3 (coding exon 2) of the KIAA2022 gene. This alteration results from a T to C substitution at nucleotide position 2605, causing the serine (S) at amino acid position 869 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001766452 SCV001988989 uncertain significance not provided 2019-09-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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