ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) (rs1057517532)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410579 SCV000487756 likely pathogenic Diastrophic dysplasia 2016-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000411229 SCV000487757 likely pathogenic Multiple epiphyseal dysplasia type 4 2016-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000409259 SCV000487758 likely pathogenic Atelosteogenesis type II 2016-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000410391 SCV000487759 likely pathogenic Achondrogenesis, type IB 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001218289 SCV001390164 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2019-07-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SLC26A2 gene (p.Glu354*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 386 amino acids of the SLC26A2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC26A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 371786). This variant disrupts the C-terminus of the SLC26A2 protein. Other variant(s) that disrupt this region (p.Ser551Valfs*34, p.Lys575Serfs*10, p.Tyr569*) have been determined to be pathogenic (PMID: 7923357, 8528239, 8571951, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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