Submissions for variant NM_006005.3(WFS1):c.143C>T (p.Ala48Val)

gnomAD frequency: 0.00001  dbSNP: rs397517195

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038639	SCV000062317	likely benign	not specified	2012-11-20	criteria provided, single submitter	clinical testing	Ala48Val in exon 2 of WFS1: This variant is not expected to have clinical signif icance due to a lack of conservation across species at both the nucleotide and a mino acid level. Of note, rabbit, dolphin, cow, and horse have a valine (Val) a t this position. Therefore, this variant is likely benign.
GeneDx	RCV000766857	SCV000618806	uncertain significance	not provided	2022-01-11	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002509035	SCV002769813	likely 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 rs397517195 in Wolfram's syndrome yet.
CeGaT Center for Human Genetics Tuebingen	RCV000766857	SCV005892695	uncertain significance	not provided	2025-02-01	criteria provided, single submitter	clinical testing	WFS1: PM2