ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.477C>T (p.Asn159=)

gnomAD frequency: 0.00005  dbSNP: rs753964845
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614885 SCV000731941 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing p.Asn159Asn in exon 5 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.04% (14/34412) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org; dbSNP rs753964845). ACMG/AMP criteria applied: BP7.
GeneDx RCV001568880 SCV001792829 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509086 SCV002773839 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 rs753964845 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV002498986 SCV002809485 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001568880 SCV003325590 likely benign not provided 2024-11-22 criteria provided, single submitter clinical testing

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