ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer)

dbSNP: rs1554095154
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668851 SCV000793523 likely pathogenic Multiple epiphyseal dysplasia type 4 2017-08-24 criteria provided, single submitter clinical testing
Invitae RCV001861770 SCV002231315 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2021-10-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553407). This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser193*) in the SLC26A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A2 are known to be pathogenic (PMID: 7923357, 10482955, 11241838).
Baylor Genetics RCV003472107 SCV004201791 likely pathogenic Achondrogenesis, type IB 2022-12-18 criteria provided, single submitter clinical testing

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