ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) (rs752804141)

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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 RCV000757591 SCV000885880 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing The c.2567A>T; p.Asn856Ile variant (rs752804141) has not been reported in the medical literature, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) in the East Asian population with a frequency of 0.096 percent (identified on 18 out of 273,288 chromosomes). The asparagine at position 856 is moderately conserved considering 12 species (Alamut v2.9.0) and computational analyses of the effects of the p.Asn856Ile variant on protein structure and function indicate a deleterious effect (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: possibly damaging). Altogether, there is not enough evidence to classify the p.Asn856Ile variant with certainty.

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