ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) (rs201711375)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514093 SCV000609543 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623865 SCV000740789 uncertain significance Inborn genetic diseases 2015-01-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV000699009 SCV000827702 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2019-05-08 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 57 of the AIFM1 protein (p.Ser57Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs201711375, ExAC 0.02%). This variant has not been reported in the literature in individuals with AIFM1-related disease. ClinVar contains an entry for this variant (Variation ID: 445310). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Fulgent Genetics,Fulgent Genetics RCV000766070 SCV000897542 uncertain significance Cowchock syndrome; Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6 2018-10-31 criteria provided, single submitter clinical testing

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