ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe)

gnomAD frequency: 0.00004  dbSNP: rs147299864
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215455 SCV001387201 uncertain significance Fanconi anemia 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1049 of the FANCM protein (p.Leu1049Phe). This variant is present in population databases (rs147299864, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 944940). 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 disruptive. 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.
Baylor Genetics RCV001788425 SCV002030111 uncertain significance Spermatogenic failure 28 2021-06-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002480705 SCV002789036 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-04-12 criteria provided, single submitter clinical testing
GeneDx RCV003318670 SCV004022804 uncertain significance not provided 2024-02-16 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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003318670 SCV004218759 uncertain significance not provided 2022-11-14 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00037 (6/16008 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. 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.

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