ClinVar Miner

Submissions for variant NM_001042702.5(PJVK):c.887G>A (p.Arg296Gln)

gnomAD frequency: 0.00001  dbSNP: rs532114292
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Total submissions: 3
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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 RCV001375291 SCV001571865 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP2_Supporting
GeneDx RCV002473286 SCV002770310 uncertain significance not provided 2022-12-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003264026 SCV003983220 uncertain significance Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing The c.887G>A (p.R296Q) alteration is located in exon 7 (coding exon 6) of the DFNB59 gene. This alteration results from a G to A substitution at nucleotide position 887, causing the arginine (R) at amino acid position 296 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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