ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5579G>A (p.Arg1860His)

gnomAD frequency: 0.00007  dbSNP: rs776506025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795777 SCV000935251 uncertain significance Fanconi anemia 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1860 of the FANCM protein (p.Arg1860His). This variant is present in population databases (rs776506025, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of dyskeratosis congenita (PMID: 30995915). ClinVar contains an entry for this variant (Variation ID: 642327). 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.
GeneDx RCV001585715 SCV001811723 uncertain significance not provided 2023-01-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with ovarian or pancreatic cancer but also in unaffected controls (Hu et al., 2016; Broderick et al., 2017; Dicks et al., 2017); This variant is associated with the following publications: (PMID: 30995915, 27713038, 28881617, 26483394)

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