ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.145del (p.Arg49fs)

gnomAD frequency: 0.00001  dbSNP: rs1265764649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193471 SCV001362332 likely pathogenic Sulfate transporter-related osteochondrodysplasia 2019-11-18 criteria provided, single submitter clinical testing Variant summary: SLC26A2 c.145delA (p.Arg49AspfsX40) 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. The variant allele was found at a frequency of 4e-06 in 251140 control chromosomes (gnomAD). c.145delA has been reported in the literature in at least one compound heterozygous individual affected with Sulfate Transporter-Related Osteochondrodysplasia (Atelosteogenesis Type II) (Dwyer_2010). These data do not allow clear conclusion about variant significance. 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.
Baylor Genetics RCV001828598 SCV004201777 pathogenic Achondrogenesis, type IB 2023-11-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828598 SCV002081845 likely pathogenic Achondrogenesis, type IB 2020-12-07 no assertion criteria provided clinical testing

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