ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu)

gnomAD frequency: 0.00221  dbSNP: rs186620158
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725895 SCV000340318 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000725895 SCV000618383 uncertain significance not provided 2017-08-14 criteria provided, single submitter clinical testing The Q717E variant in the TRIOBP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The XX variant is observed in 232/66734 (0.35%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The Q717E variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret Q717E as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000765638 SCV000896967 uncertain significance Autosomal recessive nonsyndromic hearing loss 28 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725895 SCV002459743 benign not provided 2024-01-06 criteria provided, single submitter clinical testing

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