ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.263G>T (p.Gly88Val)

gnomAD frequency: 0.00001  dbSNP: rs121908928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155766 SCV000205477 uncertain significance not specified 2013-06-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly88Val varian t in COCH has not been reported in individuals with hearing loss or in large pop ulation studies. Computational analyses (biochemical amino acid properties, cons ervation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gly88Val variant may impact the protein, though this information is not predictive enough to determin e pathogenicity. A similar variant at this position, Gly88Glu, has been reported as pathogenic in the literature (Robertson 1998; Jao 2012), though this change may not reflect the impact of the more conservative Gly to Val change. In summar y, additional data is needed to determine the clinical significance of this vari ant.
Institute of Rare Diseases, West China Hospital, Sichuan University RCV005052798 SCV005686593 likely pathogenic Autosomal dominant nonsyndromic hearing loss 9 2025-01-09 criteria provided, single submitter research PM1;PM5;PM2_Supporting;PP3

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