ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) (rs727503431)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151910 SCV000200421 pathogenic Rare genetic deafness 2014-04-04 criteria provided, single submitter clinical testing The Gln739X variant in SLC26A4 has not been previously reported in individuals w ith hearing loss and was absent from large population studies. This nonsense var iant leads to a premature termination codon at position 739, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our cri teria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Counsyl RCV000409741 SCV000486539 likely pathogenic Pendred syndrome 2016-06-21 criteria provided, single submitter clinical testing
Invitae RCV001057554 SCV001222052 pathogenic not provided 2020-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln739*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs727503431, ExAC 0.009%). This variant has not been reported in the literature in individuals with SLC26A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 165265). Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). For these reasons, this variant has been classified as Pathogenic.

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