ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2224del (p.Ile742fs) (rs876657723)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221940 SCV000271453 pathogenic Rare genetic deafness 2015-08-26 criteria provided, single submitter clinical testing The p.Ile742fs variant in SLC26A4 has not been previously reported in individual s with hearing loss or Pendred syndrome and it was absent from large population studies. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 742 and lead to a premature termination codon 2 a mino acids downstream, which is predicted to lead to a truncated or absent prote in. In summary, this variant meets our criteria to be classified as pathogenic f or hearing loss in an autosomal recessive manner based on its predicted impact.
Invitae RCV001043382 SCV001207126 pathogenic not provided 2019-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile742Phefs*2) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC26A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 228397). 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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