Submissions for variant NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del)

dbSNP: rs1272826809

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000995913	SCV001150310	pathogenic	Wolfram syndrome 1	2019-06-05	criteria provided, single submitter	clinical testing
Invitae	RCV002550684	SCV003525690	uncertain significance	not provided	2023-06-10	criteria provided, single submitter	clinical testing	This variant, c.2638_2643del, results in the deletion of 2 amino acid(s) of the WFS1 protein (p.Asp880_Phe881del), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 807720). This variant has been observed in individual(s) with Wolfram syndrome (PMID: 11694551). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV000995913	SCV003804389	likely pathogenic	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 rs1272826809 in Wolfram's syndrome yet.