ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) (rs752807925)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169591 SCV000221099 likely pathogenic Pendred syndrome 2015-01-29 criteria provided, single submitter literature only
GeneDx RCV000760432 SCV000890315 pathogenic not provided 2018-11-19 criteria provided, single submitter clinical testing The Q696X nonsense variant has been reported previously in association with hearing loss (Huang et al., 2011; Chen et al., 2014; Jiang et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is observed in 3/16592 (0.0181%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.
Invitae RCV000760432 SCV001376751 pathogenic not provided 2020-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln696*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752807925, ExAC 0.02%). This variant has been observed in individuals affected with SLC26A4-related conditions (PMID: 21961810, 22289209, 26252218). ClinVar contains an entry for this variant (Variation ID: 189164). 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.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770868 SCV000902379 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control
Natera, Inc. RCV000169591 SCV001459938 pathogenic Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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