ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.700-1G>C

gnomAD frequency: 0.00005  dbSNP: rs200963884
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169177 SCV000220411 likely pathogenic Multiple epiphyseal dysplasia type 4 2014-06-13 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264500 SCV001442682 likely pathogenic Sulfate transporter-related osteochondrodysplasia 2022-10-24 criteria provided, single submitter clinical testing Variant summary: SLC26A2 c.700-1G>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 3 acceptor site. Four predict the variant creates a cryptic 3 acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251216 control chromosomes (gnomAD). c.700-1G>C has been reported in the literature in individuals affected with Sulfate Transporter-Related Osteochondrodysplasia and subsequently cited by others (example, Hastbacka_1994, Rossi_2001, Barbosa_2011). These data indicate that the variant may be associated with disease. 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.
Fulgent Genetics, Fulgent Genetics RCV002496723 SCV002810539 likely pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2021-10-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474629 SCV004201739 pathogenic Achondrogenesis, type IB 2024-03-26 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049436 SCV000081869 probable-pathogenic Diastrophic dysplasia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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