ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1804-6G>A (rs377713770)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779526 SCV000916173 uncertain significance SLC26A4-Related Disorders 2017-09-08 criteria provided, single submitter clinical testing The SLC26A4 c.1804-6G>A variant has been reported in at least 12 individuals with nonsyndromic hearing loss (Yang et al. 2005; Chen et al. 2011; Nishio & Usami 2015; Jiang et al. 2015; Wu et al. 2017). In three individuals with severe-to-profound hearing impairment, the variant was detected in trans with an intron variant (Wu et al. 2017), while in eight individuals, a second variant in the SLC26A4 gene was not identified. One of the heterozygous patients displayed severe prelingual hearing loss as well as bilateral enlarged vestibular aqueduct and Mondini dysplasia without goiter, but the patient was too young to conclude whether the variant predisposes to thyroid abnormalities (Yang et al. 2005). The c.1804-6G>A variant was absent from 319 normal hearing control individuals and is reported at a frequency of 0.003504 in the East Asian population of the Exome Aggregation Consortium. Functional studies of the variant have not been reported, but RT-PCR analysis of mRNA isolated from peripheral blood lymphocytes from a heterozygous individual did not indicate an effect on splicing (Yang et al. 2005). The evidence for this variant is limited. The c.1804-6G>A variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for SLC26A4-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000937129 SCV001082904 benign not provided 2019-02-05 criteria provided, single submitter clinical testing

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