ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)

dbSNP: rs2148018483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317509 SCV004020416 uncertain significance not specified 2023-06-30 criteria provided, single submitter clinical testing Variant summary: OTOF c.5570G>A (p.Gly1857Asp) results in a non-conservative amino acid change located in the C2 domain (IPR000008) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250962 control chromosomes (gnomAD v2.1, Exomes dataset). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5570G>A has been reported in the literature in at least one compound heterozygous individual affected with profound hearing loss (e.g., Wu_2022). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication was ascertained in the context of this evaluation (PMID: 35982127). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV001823230 SCV001763606 likely pathogenic Autosomal recessive nonsyndromic hearing loss 9 no assertion criteria provided case-control

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