ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) (rs768471577)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665266 SCV000789357 likely pathogenic Pendred syndrome 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV001227582 SCV001399944 likely pathogenic not provided 2020-07-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 446 of the SLC26A4 protein (p.Gln446Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs768471577, ExAC 0.05%). This variant has been observed to be homozygous in several families affected with clinical features of Pendred syndrome or non-syndromic hearing loss (PMID: 19287372, 25394566, 11932316, 27573290, 25491636, 24949729). ClinVar contains an entry for this variant (Variation ID: 550505). This variant has been reported to affect SLC26A4 protein function (PMID: 11932316). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291350 SCV001479824 likely pathogenic Autosomal recessive nonsyndromic deafness no assertion criteria provided research

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