ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)

dbSNP: rs1256402686
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335524 SCV001528690 uncertain significance X-linked intellectual disability, Cantagrel type 2018-04-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute of Human Genetics, University of Leipzig Medical Center RCV001335524 SCV002072551 likely benign X-linked intellectual disability, Cantagrel type 2022-01-18 criteria provided, single submitter clinical testing Criteria applied: BP4_SUP, BS2_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV001871872 SCV002209985 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035792 SCV003586922 uncertain significance not specified 2024-09-20 criteria provided, single submitter clinical testing The c.3728G>A (p.R1243H) alteration is located in exon 3 (coding exon 2) of the KIAA2022 gene. This alteration results from a G to A substitution at nucleotide position 3728, causing the arginine (R) at amino acid position 1243 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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