Variants
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rs775565659

  • Uncertain significance

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Description

The p.Arg2277Gln variant in TRIOBP has not been previously reported in individuals with hearing loss but has been identified in 0.017% (4/23080) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

Reference Allele

G


Alternative Allele

A

Chromosome

22


Location

37769356


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_001039141.3(TRIOBP):c.6830G>A (p.Arg2277Gln)


Allele

A


Clinical Significance

Uncertain significance

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