ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.279T>G (p.Ser93Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702943 SCV005203840 likely pathogenic Pendred syndrome 2024-07-02 criteria provided, single submitter clinical testing Variant summary: SLC26A4 c.279T>G (p.Ser93Arg) results in a non-conservative amino acid change located in the SLC26A/SulP transporter domain (IPR011547) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251460 control chromosomes. To our knowledge, no occurrence of c.279T>G in individuals affected with Pendred Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. A different variant with the same amino acid effect, c.279T>A, has been classified as Pathogenic in ClinVar (Variation ID: 1297066). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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