ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)

gnomAD frequency: 0.00021  dbSNP: rs950301098
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799206 SCV000938859 uncertain significance Fanconi anemia complementation group E 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 22 of the FANCE protein (p.Leu22Pro). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with FANCE-related conditions. ClinVar contains an entry for this variant (Variation ID: 645170). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252240 SCV002523877 uncertain significance See cases 2020-12-01 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4
Fulgent Genetics, Fulgent Genetics RCV000799206 SCV002784201 uncertain significance Fanconi anemia complementation group E 2021-07-07 criteria provided, single submitter clinical testing
GeneDx RCV004723195 SCV005333591 uncertain significance not provided 2023-06-21 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

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