ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.713-1075C>G

gnomAD frequency: 0.62564  dbSNP: rs6446482
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830171 SCV000971906 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000987406 SCV001136695 benign Wolfram syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
H3Africa Consortium RCV001777131 SCV002014658 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.707, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000987406 SCV002605559 benign Wolfram syndrome 1 criteria provided, single submitter research Mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. rs6446482 variant is also seen in patients with Diabetes Mellitus. However, the role of this particular variant is yet to be ascertained.
OMIM RCV001255180 SCV000024962 pathogenic Type 2 diabetes mellitus 2024-03-06 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000004786 SCV001142336 benign Diabetes mellitus, noninsulin-dependent, association with 2020-01-06 no assertion criteria provided curation NG_011700.1(NM_006005.3):c.713-1075C>G (rs6446482) in the WFS1 gene has an allele frequency of 0.647 in African subpopulation in the gnomAD database, including 6277 homozygous. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.

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