ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2771A>G (p.Glu924Gly)

gnomAD frequency: 0.00003  dbSNP: rs1471175454
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001121 SCV001158261 uncertain significance not specified 2019-03-18 criteria provided, single submitter clinical testing The OTOF c.2771A>G; p.Glu924Gly variant (rs1471175454), to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.001% (3/276,888 alleles) in the Genome Aggregation Database. The glutamic acid at codon 924 is weakly conserved (Alamut v.2.11) and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, based on the available information, the clinical significance of this variant is uncertain.

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