ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)

gnomAD frequency: 0.00001  dbSNP: rs397516416
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036438 SCV000060093 pathogenic Rare genetic deafness 2011-07-28 criteria provided, single submitter clinical testing The Gln446X variant in SLC26A4 has been reported as a compound heterozygous vari ant in one proband with hearing loss and EVA and was absent in 168 normal hearin g controls (Wang 2007). In addition, this variant leads to a premature stop codo n at position 446, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic.
Counsyl RCV000169037 SCV000220192 likely pathogenic Pendred syndrome 2014-03-27 criteria provided, single submitter literature only
Genome-Nilou Lab RCV001785459 SCV002026925 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000169037 SCV002026926 likely pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV002513382 SCV003440147 pathogenic not provided 2022-01-26 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with deafness and/or enlarged vestibular aqueducts (PMID: 17718863, 30842343, 30896630, 33597575). This variant is present in population databases (rs397516416, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Gln446*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). ClinVar contains an entry for this variant (Variation ID: 43504). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001785459 SCV004202422 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2022-05-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169037 SCV002079995 pathogenic Pendred syndrome 2021-06-09 no assertion criteria provided clinical testing

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