ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)

gnomAD frequency: 0.00002  dbSNP: rs368119540
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169404 SCV000220803 likely pathogenic Pendred syndrome 2014-10-15 criteria provided, single submitter literature only
Invitae RCV001061760 SCV001226515 pathogenic not provided 2023-05-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189017). This premature translational stop signal has been observed in individual(s) with clinical features of Pendred syndrome (PMID: 22412181, 25394566). This variant is present in population databases (rs368119540, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Trp640*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815).
Genome-Nilou Lab RCV000169404 SCV002026958 pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474912 SCV004201892 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-08-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169404 SCV001459932 pathogenic Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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