ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)

gnomAD frequency: 0.00017  dbSNP: rs146436929
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818486 SCV000959101 uncertain significance Fanconi anemia 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1950 of the FANCM protein (p.Leu1950Val). This variant is present in population databases (rs146436929, gnomAD 0.07%). This missense change has been observed in individual(s) with Fanconi anemia (PMID: 26740942). ClinVar contains an entry for this variant (Variation ID: 661134). 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: "Tolerated"; 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.
GeneDx RCV001731943 SCV001982904 uncertain significance not provided 2023-10-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26740942)
Fulgent Genetics, Fulgent Genetics RCV002507433 SCV002816289 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-03-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001731943 SCV004218832 uncertain significance not provided 2023-06-19 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in an individual with Fanconi anemia (PMID: 26740942 (2015)). The frequency of this variant in the general population, 0.00072 (18/24972 chromosomes in African/African American subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
Mendelics RCV003492178 SCV004232593 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing

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