ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn)

gnomAD frequency: 0.00011  dbSNP: rs139201321
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Total submissions: 3
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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 RCV000151593 SCV000199753 uncertain significance not specified 2013-11-13 criteria provided, single submitter clinical testing The Asp1651Asn variant in OTOF has not been previously reported in individuals w ith hearing loss but was detected in 0.02% (1/4406) of African American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu; dbSNP r s139201321). Computational tools (amino acid biochemical properties, conservati on, AlignGVGD, SIFT, PolyPhen-2) do not provide strong evidence for or against a n impact to the protein. Additional information is required to establish the cl inical significance of this variant.
Invitae RCV001850068 SCV002151474 likely benign not provided 2023-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003242992 SCV003939380 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.4951G>A (p.D1651N) alteration is located in exon 39 (coding exon 39) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 4951, causing the aspartic acid (D) at amino acid position 1651 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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