ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) (rs200511789)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154348 SCV000204011 likely benign not specified 2015-07-01 criteria provided, single submitter clinical testing p.Ile490Leu in exon 5 of SLC26A4: This variant is not expected to have clinical significance because it has been identified in in 0.2% (38/16512) of South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs200511789), and functional in vitro analysis has shown that thi s variant does not significantly impact protein function (Scott 2000). Although this variant has been been reported in two probands with hearing loss and enlar ged vestibular aqueducts (Li 1998, Landa 2013), one proband also carried a secon d homozygous pathogenic variant in SLC26A4 that segregated with hearing loss in affected family members and was likely to be the cause of hearing loss. In summ ary, based on the frequency and functional data, this variant is likely benign.
Counsyl RCV000673746 SCV000798983 uncertain significance Pendred syndrome 2018-04-09 criteria provided, single submitter clinical testing
Invitae RCV000938882 SCV001084709 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001162717 SCV001324680 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000673746 SCV001324681 uncertain significance Pendred syndrome 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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