ClinVar Miner

Submissions for variant NM_002139.4(RBMX):c.296C>T (p.Pro99Leu)

gnomAD frequency: 0.00001  dbSNP: rs1241455828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004656913 SCV005159666 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.296C>T (p.P99L) alteration is located in exon 4 (coding exon 3) of the RBMX gene. This alteration results from a C to T substitution at nucleotide position 296, causing the proline (P) at amino acid position 99 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Brain Gene Registry RCV002275689 SCV002564389 not provided Syndromic X-linked intellectual disability Shashi type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-15-2018 by lab or GTR ID 1006. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IIDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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