ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)

gnomAD frequency: 0.00006  dbSNP: rs71524360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506948 SCV000605614 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing The p.Ala575Gly variant (rs71524360) has not been reported in the medical literature in association with hearing loss nor has it been previously identified in our laboratory. It is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in Latino populations of 0.10% (identified in 35 out of 34,416 chromosomes, including 1 homozygote). The alanine at codon 575 is moderately conserved considering 13 species (Alamut software v2.9), and computational analyses return mixed results regarding the effect of this variant on WFS1 protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: disease causing). Thus, based on the available information, the clinical significance of the p.Ala575Gly variant cannot be determined with certainty.
Fulgent Genetics, Fulgent Genetics RCV000765784 SCV000897173 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000506948 SCV002370436 likely benign not provided 2023-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000506948 SCV002498917 uncertain significance not provided 2022-09-29 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; This variant is associated with the following publications: (PMID: 26435059)

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