ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.797C>T (p.Thr266Ile)

gnomAD frequency: 0.00004  dbSNP: rs199789515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664792 SCV000788807 uncertain significance Multiple epiphyseal dysplasia type 4 2016-12-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330877 SCV004039033 uncertain significance not specified 2023-08-11 criteria provided, single submitter clinical testing Variant summary: SLC26A2 c.797C>T (p.Thr266Ile) results in a non-conservative amino acid change located in the SLC26A/SulP transporter domain (IPR011547) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 251316 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in SLC26A2 causing Sulfate Transporter-Related Osteochondrodysplasia (4.4e-05 vs 0.003), allowing no conclusion about variant significance. c.797C>T has been reported in the literature in an individual affected with intermediate form between recessive form of multiple epiphyseal dysplasia (r-MED) and diastrophic dysplasia (DTD) (example: Miyake_2008). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 18553123). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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