ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1696C>T (p.Arg566Trp)

dbSNP: rs760584389
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808127 SCV002058621 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2022-01-03 criteria provided, single submitter clinical testing The variant observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.876, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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