ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1994dup (p.His665fs)

dbSNP: rs2113699563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706801 SCV001934307 likely pathogenic Diastrophic dysplasia 2020-11-09 criteria provided, single submitter clinical testing
Invitae RCV001882780 SCV002182871 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His665Glnfs*11) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acid(s) of the SLC26A2 protein. This variant is not present in population databases (gnomAD no frequency). 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: 1285445). This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions.
Baylor Genetics RCV003474013 SCV004201758 likely pathogenic Achondrogenesis, type IB 2023-07-29 criteria provided, single submitter clinical testing

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