ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1705C>A (p.Arg569Ser)

dbSNP: rs1388696715
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903277 SCV002161436 uncertain significance Fanconi anemia 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 569 of the FANCM protein (p.Arg569Ser). This variant is not present in population databases (gnomAD no frequency). 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: 1396984). 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.
PreventionGenetics, part of Exact Sciences RCV004538594 SCV004116223 uncertain significance FANCM-related disorder 2023-07-12 criteria provided, single submitter clinical testing The FANCM c.1705C>A variant is predicted to result in the amino acid substitution p.Arg569Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. In ClinVar, this variant is classified as uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/1396984/). 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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