ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) (rs142498437)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411469 SCV000485281 likely pathogenic Pendred syndrome 2016-01-14 criteria provided, single submitter clinical testing
Invitae RCV001216381 SCV001388177 pathogenic not provided 2019-08-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 413 of the SLC26A4 protein (p.Gln413Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs142498437, ExAC 0.002%). This variant has been observed in several individuals and families affected with SLC26A4-related conditions (PMID: 26752218, 21961810, 25290043, 20137612, 25266519, 23185506, 25372295, 25015771, 24248179). ClinVar contains an entry for this variant (Variation ID: 370080). This variant has been reported to affect SLC26A4 protein function (PMID: 26752218). This variant disrupts the p.Gln413 amino acid residue in SLC26A4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18285825, 19017801). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291348 SCV001479822 likely pathogenic Autosomal recessive nonsyndromic deafness no assertion criteria provided research

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