ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.484G>T (p.Val162Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472852 SCV004201731 likely pathogenic Achondrogenesis, type IB 2023-10-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690415 SCV005184623 uncertain significance not specified 2024-05-31 criteria provided, single submitter clinical testing Variant summary: SLC26A2 c.484G>T (p.Val162Leu) results in a conservative amino acid change located in the SLC26A/SulP transporter domain (IPR011547) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 247772 control chromosomes. c.484G>T has been reported in the literature in the presumed compound heterozygous state in at least 3 individuals affected with clinical features of Sulfate Transporter-Related Osteochondrodysplasia (example, Li_2020, Lv_2021, Yang_2021), including at least 2 individuals who carried a pathogenic variant in trans. 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. The following publications have been ascertained in the context of this evaluation (PMID: 32619261, 34557487, 33728303). ClinVar contains an entry for this variant (Variation ID: 2678876). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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