ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) (rs1554357231)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599267 SCV000709980 pathogenic not provided 2018-02-21 criteria provided, single submitter clinical testing The G316X variant in the SLC26A4 gene has been reported previously as heterozygous, along with the c.919-2 A>G variant, in patients with enlarged vestibular aqueduct without Mondini dysplasia (Huang et al., 2011). The G316X variant has also been reported in in patients with severe to profound nonsyndromic hearing loss (Li et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The G316X variant is not observed in large population cohorts (Lek et al., 2016). We interpret G316X as a pathogenic variant.
Invitae RCV000599267 SCV001214484 pathogenic not provided 2019-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly316*) 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 been observed in individual(s) with clinical features of SLC26A4-related diseases including enlarged vestibular aqueduct and nonsyndromic hearing loss (PMID: 21961810, 25266519, 31035178). ClinVar contains an entry for this variant (Variation ID: 503714). 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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