ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)

dbSNP: rs786204523
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169223 SCV000220488 likely pathogenic Pendred syndrome 2014-07-08 criteria provided, single submitter literature only
Invitae RCV001208827 SCV001380236 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe709Leufs*12) 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 (rs558570919, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with Pendred syndrome (PMID: 9618167, 24224479). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 188869). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000169223 SCV002026969 likely pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001208827 SCV002770055 pathogenic not provided 2022-06-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24224479, 33199029, 9618167)
Baylor Genetics RCV003474900 SCV004201839 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169223 SCV002080025 pathogenic Pendred syndrome 2020-07-17 no assertion criteria provided clinical testing

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