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

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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	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	Nonsyndromic Hearing Loss, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
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.

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