ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4928C>T (p.Thr1643Ile)

gnomAD frequency: 0.00001  dbSNP: rs762187580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064099 SCV001228975 uncertain significance Fanconi anemia 2021-04-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCM-related conditions. This sequence change replaces threonine with isoleucine at codon 1643 of the FANCM protein (p.Thr1643Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs762187580, ExAC 0.003%). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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