ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.737del (p.Asn246fs)

dbSNP: rs918684449
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674300 SCV000799613 likely pathogenic Pendred syndrome 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806485 SCV000946489 pathogenic not provided 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn246Thrfs*43) 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). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 27344577). ClinVar contains an entry for this variant (Variation ID: 558078). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000674300 SCV002026686 likely pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472169 SCV004201887 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-08-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000674300 SCV002079976 pathogenic Pendred syndrome 2020-10-31 no assertion criteria provided clinical testing

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