Submissions for variant NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002861503	SCV003214798	pathogenic	Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia	2022-07-06	criteria provided, single submitter	clinical testing	This variant disrupts a region of the SLC26A2 protein in which other variant(s) (p.Glu593*) have been determined to be pathogenic (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. A different variant (c.1343C>G) giving rise to the same protein effect has been determined to be pathogenic (Invitae). This suggests that this variant is also likely to be causative of disease. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser448*) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 292 amino acid(s) of the SLC26A2 protein.
Baylor Genetics	RCV004571340	SCV005056814	pathogenic	Achondrogenesis, type IB	2024-03-04	criteria provided, single submitter	clinical testing