Submissions for variant NM_006005.3(WFS1):c.1290G>A (p.Ser430=)

gnomAD frequency: 0.00002  dbSNP: rs752100338

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223036	SCV000271190	likely benign	not specified	2015-11-09	criteria provided, single submitter	clinical testing	p.Ser430Ser in exon 8 of WFS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence It been identified in 2/66730 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs752100338).
Illumina Laboratory Services, Illumina	RCV000404067	SCV000450605	uncertain significance	Nonsyndromic Hearing Loss, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000311096	SCV000450606	uncertain significance	WFS1-Related Spectrum Disorders	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001853422	SCV002179622	likely benign	not provided	2022-09-12	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003126607	SCV003801344	benign	Wolfram syndrome 1		criteria provided, single submitter	research	Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs752100338 in Wolfram's syndrome yet.