ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr)

gnomAD frequency: 0.00001  dbSNP: rs770438244
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Total submissions: 5
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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 RCV000610597 SCV000712621 uncertain significance not specified 2016-11-01 criteria provided, single submitter clinical testing The p.Asn1402Tyr variant in OTOGL has not been previously reported in individual s with hearing loss. This variant was identified in 2/8374 East Asian chromosom es by the Exome Aggregation Consortium (ExAC,; db SNP rs770438244); however, its frequency is not high enough to rule out a pathog enic role. Computational prediction tools and conservation analyses do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Asn1402Tyr variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV000765109 SCV000896331 uncertain significance Autosomal recessive nonsyndromic hearing loss 84B 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV002531151 SCV002958985 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 1402 of the OTOGL protein (p.Asn1402Tyr). This variant is present in population databases (rs770438244, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with OTOGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 505424). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002531152 SCV003546897 uncertain significance Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing The c.4204A>T (p.N1402Y) alteration is located in exon 35 (coding exon 35) of the OTOGL gene. This alteration results from a A to T substitution at nucleotide position 4204, causing the asparagine (N) at amino acid position 1402 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002531151 SCV003927377 uncertain significance not provided 2022-11-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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