ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)

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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 RCV003472860 SCV004201761 likely pathogenic Achondrogenesis, type IB 2023-07-24 criteria provided, single submitter clinical testing
Invitae RCV003779114 SCV004575368 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-07-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs772015926, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp98*) 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 has not been reported in the literature in individuals affected with SLC26A2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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