Submissions for variant NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)

dbSNP: rs1554095374

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000669769	SCV000794552	likely pathogenic	Multiple epiphyseal dysplasia type 4	2017-09-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001855528	SCV002158808	pathogenic	Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia	2021-03-23	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals with SLC26A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 554186). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro606Glnfs*3) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 134 amino acid(s) of the SLC26A2 protein. This variant disrupts the C-terminus of the SLC26A2 protein. Other variant(s) that disrupt this region (p.Asp673Leufs*2) have been determined to be pathogenic (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.
Fulgent Genetics, Fulgent Genetics	RCV001855528	SCV002778986	likely pathogenic	Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia	2021-11-16	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003472117	SCV004201762	likely pathogenic	Achondrogenesis, type IB	2023-07-19	criteria provided, single submitter	clinical testing