ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2518G>A (p.Val840Ile)

gnomAD frequency: 0.00016  dbSNP: rs374402732
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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 RCV001063176 SCV001228011 uncertain significance Fanconi anemia 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 840 of the FANCM protein (p.Val840Ile). This variant is present in population databases (rs374402732, gnomAD 0.04%). 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: 857495). 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.
Baylor Genetics RCV001293943 SCV001482645 uncertain significance Spermatogenic failure 28 2020-05-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003227000 SCV003923588 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 34754157)
PreventionGenetics, part of Exact Sciences RCV004536124 SCV004713379 uncertain significance FANCM-related disorder 2023-11-29 no assertion criteria provided clinical testing The FANCM c.2518G>A variant is predicted to result in the amino acid substitution p.Val840Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.036% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-45644475-G-A). In ClinVar, this variant is classified as a variant of uncertain clinical significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/857495/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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