ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.485_486delTG (rs763198695)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411191 SCV000487731 likely pathogenic Diastrophic dysplasia 2016-10-04 criteria provided, single submitter clinical testing
Counsyl RCV000409216 SCV000487732 likely pathogenic Multiple epiphyseal dysplasia 4 2016-10-04 criteria provided, single submitter clinical testing
Counsyl RCV000410244 SCV000487733 likely pathogenic Atelosteogenesis type 2 2016-10-04 criteria provided, single submitter clinical testing
Counsyl RCV000411337 SCV000487734 likely pathogenic Achondrogenesis, type IB 2016-10-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780713 SCV000918220 likely pathogenic Osteochondrodysplasia 2018-08-06 criteria provided, single submitter clinical testing Variant summary: SLC26A2 c.485_486delTG (p.Val162GlyfsX12) 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. p.Tyr569X, p.Lys575fsX10). The variant allele was found at a frequency of 7.3e-06 in 273680 control chromosomes. c.485_486delTG has been reported in the literature in one individual affected with Sulfate Transporter-Related Osteochondrodysplasia (CHo_2010), suggesting pathogenicity. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. This laboratory classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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