ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.631+5G>A

gnomAD frequency: 0.00001  dbSNP: rs863224261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198681 SCV000252515 uncertain significance not provided 2012-08-28 criteria provided, single submitter clinical testing c.631+5 G>A:IVS5+5 G>A in intron 5 of the WFS1 gene (NM_006005.3) The c.631+5 G>A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Two in-silico splice prediction models predict that c.631+5 G>A destroys or damages the natural splice donor site in intron 5. However, the true effect of c.631+5 G>A on splicing in vivo is not known. Therefore, based on the currently available information it is unclear whether c.631+5 G>A is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000198681 SCV002130735 uncertain significance not provided 2023-11-18 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the WFS1 gene. It does not directly change the encoded amino acid sequence of the WFS1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 215379). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509051 SCV002773852 uncertain significance 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 rs863224261 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV002492909 SCV002775939 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-07-27 criteria provided, single submitter clinical testing

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