ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)

gnomAD frequency: 0.00001  dbSNP: rs774648833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236938 SCV001409679 pathogenic Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 962984). This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. This variant is present in population databases (rs774648833, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Ile651Leufs*9) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 89 amino acid(s) of the SLC26A2 protein.
Baylor Genetics RCV003473813 SCV004201769 likely pathogenic Achondrogenesis, type IB 2023-06-08 criteria provided, single submitter clinical testing

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