ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp)

dbSNP: rs745520384
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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 RCV001195513 SCV001365891 uncertain significance not specified 2019-08-14 criteria provided, single submitter clinical testing The p.Ala567Asp variant in OTOF has not been previously reported in individuals with hearing loss but has been identified in 0.01% (5/34564) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3.
Ambry Genetics RCV002560203 SCV003547987 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.1700C>A (p.A567D) alteration is located in exon 15 (coding exon 15) of the OTOF gene. This alteration results from a C to A substitution at nucleotide position 1700, causing the alanine (A) at amino acid position 567 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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