ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.446C>T (p.Thr149Met) (rs140454738)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041545 SCV000065240 likely benign not specified 2018-01-25 criteria provided, single submitter clinical testing p.Thr149Met in exon 5A of OTOF: This variant is not expected to have clinical si gnificance because it has also been identified in 0.34% (35/10152) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro; dbSNP rs140454738). It has also been identified in 1 individua l with Usher syndrome who was found to have an alternate genetic etiology for Us her syndrome. ACMG/AMP criteria applied: BS1; BP5; PP3.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724434 SCV000231241 uncertain significance not provided 2014-12-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001143779 SCV001304330 uncertain significance Deafness, autosomal recessive 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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