ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)

dbSNP: rs1057517511
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409678 SCV000487664 likely pathogenic Diastrophic dysplasia 2016-07-18 criteria provided, single submitter clinical testing
Counsyl RCV000410828 SCV000487665 likely pathogenic Multiple epiphyseal dysplasia type 4 2016-07-18 criteria provided, single submitter clinical testing
Counsyl RCV000412349 SCV000487666 likely pathogenic Atelosteogenesis type II 2016-07-18 criteria provided, single submitter clinical testing
Counsyl RCV000409864 SCV000487667 likely pathogenic Achondrogenesis, type IB 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV001850977 SCV002235510 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile514Metfs*14) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 226 amino acid(s) of the SLC26A2 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 371758). This variant disrupts a region of the SLC26A2 protein in which other variant(s) (p.Glu703Glyfs*9) have been determined to be pathogenic (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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000409864 SCV004201750 likely pathogenic Achondrogenesis, type IB 2024-02-20 criteria provided, single submitter clinical testing

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