Submissions for variant NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)

dbSNP: rs386833507

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780714	SCV000918221	likely pathogenic	Sulfate transporter-related osteochondrodysplasia	2018-08-27	criteria provided, single submitter	clinical testing	Variant summary: SLC26A2 c.55G>T (p.Gly19X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.532C>T, p.Arg178X and c.1724delA, p.Lys575fsX10; ). The variant was absent in 31182 control chromosomes (gnomAD and publication). The variant, c.55G>T, has been reported in the literature in only one individual affected with diastrophic dysplasia (Rossi_2001). This report does not provide unequivocal conclusions about association of the variant with Sulfate Transporter-Related Osteochondrodysplasia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae	RCV001853039	SCV002230664	pathogenic	Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia	2023-06-27	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 56026). For these reasons, this variant has been classified as Pathogenic. This variant is also known as 82G>T G19X. This premature translational stop signal has been observed in individual(s) with diastrophic dysplasia (PMID: 11241838). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly19*) in the SLC26A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A2 are known to be pathogenic (PMID: 7923357, 10482955, 11241838).
Baylor Genetics	RCV004566897	SCV005056807	likely pathogenic	Achondrogenesis, type IB	2024-03-30	criteria provided, single submitter	clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	RCV000049435	SCV000081868	probable-pathogenic	Diastrophic dysplasia		no assertion criteria provided	not provided	Converted during submission to Likely pathogenic.