ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu)

gnomAD frequency: 0.00067  dbSNP: rs200313246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001337109 SCV001530686 uncertain significance Autosomal recessive nonsyndromic hearing loss 28 2018-10-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001560410 SCV001782820 uncertain significance not provided 2021-03-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002547365 SCV003720806 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.6632A>T (p.Q2211L) alteration is located in exon 20 (coding exon 18) of the TRIOBP gene. This alteration results from a A to T substitution at nucleotide position 6632, causing the glutamine (Q) at amino acid position 2211 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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