ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter)

dbSNP: rs1429562386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811272 SCV000951530 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2018-12-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SLC26A2 gene (p.Gln233*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 507 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 disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the SLC26A2 protein. Other variant(s) that disrupt this region (p.Lys575Serfs*10) have been determined to be likely pathogenic (PMID: 7923357, 8528239, 8571951). 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.
Baylor Genetics RCV003472411 SCV004201776 likely pathogenic Achondrogenesis, type IB 2023-04-04 criteria provided, single submitter clinical testing

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