ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1394del (p.Leu465fs)

dbSNP: rs386833495
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049423 SCV000487498 likely pathogenic Diastrophic dysplasia 2016-01-27 criteria provided, single submitter clinical testing
Counsyl RCV000410943 SCV000487499 likely pathogenic Multiple epiphyseal dysplasia type 4 2016-01-27 criteria provided, single submitter clinical testing
Counsyl RCV000412478 SCV000487500 likely pathogenic Atelosteogenesis type II 2016-01-27 criteria provided, single submitter clinical testing
Counsyl RCV000410056 SCV000487501 likely pathogenic Achondrogenesis, type IB 2016-01-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410056 SCV004201790 likely pathogenic Achondrogenesis, type IB 2023-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764719 SCV004569669 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu465Cysfs*5) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 275 amino acid(s) of the SLC26A2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with diastrophic dysplasia (PMID: 11241838). This variant is also known as 1421delT. ClinVar contains an entry for this variant (Variation ID: 56014). This variant disrupts a region of the SLC26A2 protein in which other variant(s) (p.Ala715Val) have been determined to be pathogenic (PMID: 8571951, 11448940, 15294877, 21077204, 21922596). 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.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049423 SCV000081856 probable-pathogenic Diastrophic dysplasia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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