ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)

dbSNP: rs1057517530
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410954 SCV000487745 likely pathogenic Diastrophic dysplasia 2016-10-19 criteria provided, single submitter clinical testing
Counsyl RCV000412069 SCV000487746 likely pathogenic Multiple epiphyseal dysplasia type 4 2016-10-19 criteria provided, single submitter clinical testing
Counsyl RCV000409656 SCV000487747 likely pathogenic Atelosteogenesis type II 2016-10-19 criteria provided, single submitter clinical testing
Counsyl RCV000411101 SCV000487748 likely pathogenic Achondrogenesis, type IB 2016-10-19 criteria provided, single submitter clinical testing
Invitae RCV002524629 SCV003257209 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2022-07-11 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 371783). 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). This sequence change creates a premature translational stop signal (p.Thr603Serfs*5) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 137 amino acid(s) of the SLC26A2 protein. 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. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000411101 SCV004171030 pathogenic Achondrogenesis, type IB 2023-11-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411101 SCV004201772 pathogenic Achondrogenesis, type IB 2023-06-01 criteria provided, single submitter clinical testing

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