ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) (rs727505080)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156520 SCV000206239 likely benign not specified 2014-05-06 criteria provided, single submitter clinical testing Val281Ile in exon 7 of SLC26A4: This variant has been identified in one individu al with hearing loss who carried a second pathogenic variant in SLC26A4 (Pourova 2010). However, this variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Many species, inclu ding several primates, carry an isoleucine (Ile) at this position despite high n earby amino acid conservation. In addition, computational prediction tools do no t suggest a high likelihood of impact to the protein.
Illumina Clinical Services Laboratory,Illumina RCV000295053 SCV000466083 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV000352007 SCV000466084 uncertain significance Pendred syndrome 2016-07-27 criteria provided, single submitter clinical testing The SLC26A4 c.841G>A (p.Val281Ile) variant is a missense variant that has been reported in a compound heterozygous state with a second, known pathogenic splicing variant in one individual with Pendred syndrome (Pourova et al. 2010). Control data are unavailable for this variant, which is reported at a frequency of 0.00174 in the Latino population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Val281Ile variant is thus classified as a variant of unknown significance but suspicious for pathogenicity for Pendred syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Mendelics RCV000352007 SCV001137435 benign Pendred syndrome 2019-05-28 criteria provided, single submitter clinical testing

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