ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.1490T>A (p.Ile497Asn)

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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 RCV004285650 SCV004864537 uncertain significance Inborn genetic diseases 2024-01-24 criteria provided, single submitter clinical testing The c.1490T>A (p.I497N) alteration is located in exon 15 (coding exon 14) of the EPS8 gene. This alteration results from a T to A substitution at nucleotide position 1490, causing the isoleucine (I) at amino acid position 497 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Brain Gene Registry RCV003233269 SCV003931202 not provided Autosomal recessive nonsyndromic hearing loss 102 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 03-16-2017 by The Children's Hospital of Philadelphia. 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 Dr. Philip Payne 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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