ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003026334 SCV003329217 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2022-09-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. This sequence change creates a premature translational stop signal (p.Lys72*) in the SLC26A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A2 are known to be pathogenic (PMID: 7923357, 10482955, 11241838). This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV004572579 SCV005056812 likely pathogenic Achondrogenesis, type IB 2024-03-23 criteria provided, single submitter clinical testing

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