ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)

dbSNP: rs1554095364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665350 SCV000789459 likely pathogenic Multiple epiphyseal dysplasia type 4 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855439 SCV002235039 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2022-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr588*) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 152 amino acid(s) of the SLC26A2 protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SLC26A2 protein in which other variant(s) (p.Ala715Val) have been determined to be pathogenic (PMID: 8571951, 21077204, 21922596; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 550571). This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV003472070 SCV004201765 likely pathogenic Achondrogenesis, type IB 2023-06-21 criteria provided, single submitter clinical testing

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