ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1649del (p.Lys550fs)

dbSNP: rs1057517482
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409538 SCV000487535 likely pathogenic Diastrophic dysplasia 2016-03-15 criteria provided, single submitter clinical testing
Counsyl RCV000411088 SCV000487536 likely pathogenic Multiple epiphyseal dysplasia type 4 2016-03-15 criteria provided, single submitter clinical testing
Counsyl RCV000412144 SCV000487537 likely pathogenic Atelosteogenesis type II 2016-03-15 criteria provided, single submitter clinical testing
Counsyl RCV000409746 SCV000487538 likely pathogenic Achondrogenesis, type IB 2016-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409746 SCV004201737 likely pathogenic Achondrogenesis, type IB 2023-10-10 criteria provided, single submitter clinical testing
Invitae RCV003766134 SCV004609423 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys550Argfs*35) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 190 amino acid(s) of the SLC26A2 protein. This variant is not present in population databases (gnomAD no frequency). 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: 371717). This variant disrupts a region of the SLC26A2 protein in which other variant(s) (p.Ala715Val) have been determined to be pathogenic (PMID: 11448940, 15294877, 21077204). 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.

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