ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1714del (p.Leu572fs)

dbSNP: rs2113699101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382138 SCV001580769 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2020-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SLC26A2-related conditions. This sequence change results in a premature translational stop signal in the SLC26A2 gene (p.Leu572Phefs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 168 amino acids of the SLC26A2 protein. This variant is not present in population databases (ExAC no frequency). This variant disrupts the C-terminus of the SLC26A2 protein. Other variant(s) that disrupt this region (p.Lys575Serfs*10) have been determined to be pathogenic (PMID: 7923357, 8528239, 8571951, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004570942 SCV005056829 likely pathogenic Achondrogenesis, type IB 2023-11-04 criteria provided, single submitter clinical testing

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