ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)

gnomAD frequency: 0.00001  dbSNP: rs771098555
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036925 SCV001200313 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2019-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SLC26A2 protein. Other variant(s) that disrupt this region (p.Lys575Serfs*) have been determined to be pathogenic (PMID: 8571951, 8528239). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with SLC26A2-related conditions. This variant is present in population databases (rs771098555, ExAC 0.009%). This sequence change results in a premature translational stop signal in the SLC26A2 gene (p.Ser448*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 292 amino acids of the SLC26A2 protein.

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