ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.788C>T (p.Ala263Val)

gnomAD frequency: 0.00007  dbSNP: rs1013661076
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001933448 SCV002206016 uncertain significance not provided 2021-08-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 263 of the OTOF protein (p.Ala263Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with OTOF-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002560527 SCV003725865 uncertain significance Inborn genetic diseases 2022-08-26 criteria provided, single submitter clinical testing The c.788C>T (p.A263V) alteration is located in exon 9 (coding exon 9) of the OTOF gene. This alteration results from a C to T substitution at nucleotide position 788, causing the alanine (A) at amino acid position 263 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001933448 SCV005870311 uncertain significance not provided 2024-08-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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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