ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5155C>T (p.Arg1719Cys)

gnomAD frequency: 0.00001  dbSNP: rs1444402627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060450 SCV001225137 uncertain significance Fanconi anemia 2023-04-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. ClinVar contains an entry for this variant (Variation ID: 855232). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1719 of the FANCM protein (p.Arg1719Cys).

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