Submissions for variant NM_000441.2(SLC26A4):c.1340del (p.Lys447fs)

dbSNP: rs1562835515

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323717	SCV004028709	pathogenic	Pendred syndrome	2023-07-10	criteria provided, single submitter	clinical testing	Variant summary: SLC26A4 c.1340delA (p.Lys447SerfsX8) 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. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250738 control chromosomes (gnomAD). c.1340delA has been reported in the literature in individuals affected with non-syndromic hearing loss (example: Gao_2016). These data indicate that the variant may be associated with disease. The following publication has been ascertained in the context of this evaluation (PMID: 27792752). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	RCV000770863	SCV000902372	pathogenic	Autosomal recessive nonsyndromic hearing loss 4	2019-02-26	no assertion criteria provided	case-control