ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5632G>A (p.Val1878Met)

gnomAD frequency: 0.00001  dbSNP: rs757360892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426504 SCV000534835 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing The V1878M variant in the OTOF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V1878M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret V1878M as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002488970 SCV002789315 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2021-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002522646 SCV003732138 uncertain significance Inborn genetic diseases 2022-09-26 criteria provided, single submitter clinical testing The c.5632G>A (p.V1878M) alteration is located in exon 44 (coding exon 44) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 5632, causing the valine (V) at amino acid position 1878 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV000426504 SCV004649403 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing

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