ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002635334 SCV002969044 pathogenic not provided 2022-05-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with deafness (PMID: 32251972). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln705*) 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).
Baylor Genetics RCV003475407 SCV004204232 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-01-08 criteria provided, single submitter clinical testing

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