ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr)

gnomAD frequency: 0.00020  dbSNP: rs145556189
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Total submissions: 4
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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 RCV000825997 SCV000967485 uncertain significance not specified 2018-09-17 criteria provided, single submitter clinical testing The p.Ala1518Thr variant in OTOF has not been previously reported in individuals with hearing loss or auditory neuropathy spectrum disorder but has been identif ied in 0.058% (14/24028) African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Computational prediction tools and c onservation analysis suggest that the p.Ala1518Thr variant may not impact the pr otein, though this information is not predictive enough to rule out pathogenicit y. In summary, the clinical significance of the p.Ala1518Thr variant is uncertai n. ACMG/AMP Criteria applied: BP4, PM2_Supporting.
GeneDx RCV001772151 SCV001994595 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002536074 SCV003728554 uncertain significance Inborn genetic diseases 2021-07-21 criteria provided, single submitter clinical testing The c.4552G>A (p.A1518T) alteration is located in exon 37 (coding exon 37) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 4552, causing the alanine (A) at amino acid position 1518 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001772151 SCV004284462 benign not provided 2023-12-18 criteria provided, single submitter clinical testing

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