ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5029G>A (p.Ala1677Thr)

gnomAD frequency: 0.00019  dbSNP: rs372908847
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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 RCV000825996 SCV000967484 uncertain significance not specified 2018-09-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala1677Thr va riant in OTOF has not been previously reported in individuals with hearing loss or auditory neuropathy spectrum disorder but has been identified in 0.058% (14/2 3966) of African chromosomes by the Genome Aggregation Database (gnomAD, http:// gnomad.broadinstitute.org). Computational prediction tools and conservation anal ysis suggest that the p.Ala1677Thr variant may not impact the protein. Of note, orangutan has Threonine (Thr) at this position, though this information is not p redictive enough to rule out pathogenicity. In summary, while the clinical signi ficance of the p.Ala1677Thr variant is uncertain, the lack of conservation at th is position suggests that it is more likely to be benign. ACMG/AMP Criteria appl ied: PM2_Supporting, BP4.
GeneDx RCV001537345 SCV001754215 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 RCV002536073 SCV003728555 uncertain significance Inborn genetic diseases 2021-07-21 criteria provided, single submitter clinical testing The c.5029G>A (p.A1677T) alteration is located in exon 40 (coding exon 40) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 5029, causing the alanine (A) at amino acid position 1677 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 RCV001537345 SCV004284461 benign not provided 2023-12-18 criteria provided, single submitter clinical testing

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