ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6328G>A (p.Ala2110Thr)

dbSNP: rs1302649675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375063 SCV001571832 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting
Ambry Genetics RCV002550947 SCV003567991 uncertain significance Inborn genetic diseases 2021-07-28 criteria provided, single submitter clinical testing The c.6328G>A (p.A2110T) alteration is located in exon 18 (coding exon 16) of the TRIOBP gene. This alteration results from a G to A substitution at nucleotide position 6328, causing the alanine (A) at amino acid position 2110 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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