ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) (rs138139146)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152153 SCV000200853 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Glu2246Lys in Exon 21 of TRIOBP: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (37/6742) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs138139146).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152153 SCV000227782 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000152153 SCV000257753 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152153 SCV000306117 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000152153 SCV000618173 uncertain significance not specified 2017-09-15 criteria provided, single submitter clinical testing The E2246K variant in the TRIOBP gene has been reported previously in an individual with hearing loss who also harbored two additional variants in the TRIOBP gene reported to be in trans with E2246K, however, familial segregation information was not included (Sloan-Heggen et al., 2016). The E2246K variant is observed in 457/50,286 (0.91%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). In addition, this variant has been detected in the homozygous state in three presumably healthy individuals undergoing testing at GeneDx. The E2246K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Glutamic Acid are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E2246K as a variant of uncertain significance.
Invitae RCV000973056 SCV001120791 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000973056 SCV001146244 likely benign not provided 2019-02-18 criteria provided, single submitter clinical testing

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