ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) (rs138151478)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041547 SCV000065242 likely benign not specified 2015-07-20 criteria provided, single submitter clinical testing p.Asp1528Asn in Exon 37 of OTOF: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (43/10406) of African chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs138151478).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757587 SCV000885876 likely benign not provided 2017-12-29 criteria provided, single submitter clinical testing The OTOF p.Asp1528Asn variant (rs138151478) has been reported in a patient with hearing loss who was also homozygous for a pathogenic mutation in OTOF (Romanos 2009). The p.Asp1528Asn variant is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.48% in the African population (identified in 116 out of 24,026 chromosomes), and is classified as likely benign in ClinVar (Variant ID: 48238). Therefore, based on the available evidence, the p.Asp1528Asn variant is classified as likely benign.

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