ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.160G>A (p.Glu54Lys)

gnomAD frequency: 0.00001  dbSNP: rs1564794487
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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 RCV000706384 SCV000835429 uncertain significance Fanconi anemia 2020-03-12 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 54 of the FANCC protein (p.Glu54Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.
Natera, Inc. RCV000706384 SCV002081303 uncertain significance Fanconi anemia 2020-09-19 no assertion criteria provided clinical testing

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