ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.819del (p.Leu275fs)

dbSNP: rs750882937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204217 SCV001375416 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu275Serfs*67) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 465 amino acid(s) of the SLC26A2 protein. This variant is present in population databases (rs750882937, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 935588). This variant disrupts a region of the SLC26A2 protein in which other variant(s) (p.Tyr569*, p.Lys575Serfs*10, p.Thr627Leufs*23, p.Ser551Valfs*34, p.Glu354*) have been determined to be pathogenic (PMID: 8528239, 8571951; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473746 SCV004201788 pathogenic Achondrogenesis, type IB 2023-01-28 criteria provided, single submitter clinical testing

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