ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1982del (p.Thr661fs)

gnomAD frequency: 0.00001  dbSNP: rs762137330
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410977 SCV000487559 likely pathogenic Diastrophic dysplasia 2016-04-05 criteria provided, single submitter clinical testing
Counsyl RCV000412036 SCV000487560 likely pathogenic Multiple epiphyseal dysplasia type 4 2016-04-05 criteria provided, single submitter clinical testing
Counsyl RCV000410080 SCV000487561 likely pathogenic Atelosteogenesis type II 2016-04-05 criteria provided, single submitter clinical testing
Counsyl RCV000411126 SCV000487562 likely pathogenic Achondrogenesis, type IB 2016-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389674 SCV001591123 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr661Lysfs*7) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 79 amino acid(s) of the SLC26A2 protein. This variant is present in population databases (rs762137330, 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: 371722). This variant disrupts a region of the SLC26A2 protein in which other variant(s) (p.Asp673Leufs*2) 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 RCV000411126 SCV004201742 likely pathogenic Achondrogenesis, type IB 2023-11-23 criteria provided, single submitter clinical testing

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