ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) (rs386833507)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780714 SCV000918221 likely pathogenic Osteochondrodysplasia 2018-08-27 criteria provided, single submitter clinical testing Variant summary: SLC26A2 c.55G>T (p.Gly19X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.532C>T, p.Arg178X and c.1724delA, p.Lys575fsX10; ). The variant was absent in 31182 control chromosomes (gnomAD and publication). The variant, c.55G>T, has been reported in the literature in only one individual affected with diastrophic dysplasia (Rossi_2001). This report does not provide unequivocal conclusions about association of the variant with Sulfate Transporter-Related Osteochondrodysplasia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049435 SCV000081868 probable-pathogenic Diastrophic dysplasia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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