ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055826 SCV001220236 pathogenic not provided 2020-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu727Tyrfs*28) 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 reported in combination with a second variant in several individuals affected with Pendred syndrome, non-syndromic hearing loss, or hearing loss and dilatation of the vestibular aqueduct (PMID: 17125574, 24224479, 23638949, 25394566). This variant is also known as 2177-2178insCTAT in the literature. 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.
Natera, Inc. RCV001275120 SCV001459942 pathogenic Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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