ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys)

gnomAD frequency: 0.00009  dbSNP: rs72889997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644757 SCV000766463 uncertain significance Cataract 18 2017-11-27 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 FYCO1-related disease. This variant is present in population databases (rs72889997, ExAC 0.02%). This sequence change replaces glutamic acid with lysine at codon 418 of the FYCO1 protein (p.Glu418Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Ambry Genetics RCV002528911 SCV003691295 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.1252G>A (p.E418K) alteration is located in exon 8 (coding exon 7) of the FYCO1 gene. This alteration results from a G to A substitution at nucleotide position 1252, causing the glutamic acid (E) at amino acid position 418 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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