ClinVar Miner

Submissions for variant NM_001946.4(DUSP6):c.545C>T (p.Ser182Phe)

gnomAD frequency: 0.00162  dbSNP: rs139318648
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001852910 SCV002294301 uncertain significance not provided 2024-01-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 182 of the DUSP6 protein (p.Ser182Phe). This variant is present in population databases (rs139318648, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with DUSP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 50855). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV001852910 SCV004135559 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing DUSP6: BS1
OMIM RCV000043595 SCV000071613 risk factor Hypogonadotropic hypogonadism 19 with or without anosmia 2013-05-02 no assertion criteria provided literature only

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