Submissions for variant NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg)

dbSNP: rs557048986

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001504964	SCV001709852	likely benign	not provided	2024-01-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001504964	SCV002546791	uncertain significance	not provided	2022-01-10	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
Ambry Genetics	RCV003346586	SCV004061596	uncertain significance	Inborn genetic diseases	2023-08-22	criteria provided, single submitter	clinical testing	The c.2432A>G (p.K811R) alteration is located in exon 8 (coding exon 7) of the WFS1 gene. This alteration results from a A to G substitution at nucleotide position 2432, causing the lysine (K) at amino acid position 811 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV005038242	SCV005667573	uncertain significance	Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome	2024-01-05	criteria provided, single submitter	clinical testing