ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe)

gnomAD frequency: 0.00003  dbSNP: rs768225923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526194 SCV000645778 likely benign Intellectual disability, autosomal dominant 1 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384171 SCV002692518 uncertain significance Inborn genetic diseases 2018-04-02 criteria provided, single submitter clinical testing The p.S435F variant (also known as c.1304C>T), located in coding exon 4 of the MBD5 gene, results from a C to T substitution at nucleotide position 1304. The serine at codon 435 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GenomeConnect - Brain Gene Registry RCV002225657 SCV002505358 not provided Intellectual disability no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-31-2020 by Lab or GTR ID 500031. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-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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