ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.2864A>G (p.Gln955Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002739692 SCV003754739 uncertain significance Inborn genetic diseases 2022-05-18 criteria provided, single submitter clinical testing The c.2864A>G (p.Q955R) alteration is located in exon 8 (coding exon 7) of the FYCO1 gene. This alteration results from a A to G substitution at nucleotide position 2864, causing the glutamine (Q) at amino acid position 955 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003526229 SCV004266081 uncertain significance Cataract 18 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 955 of the FYCO1 protein (p.Gln955Arg). This variant is present in population databases (rs777484869, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FYCO1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2401349). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FYCO1 protein function with a negative predictive value of 80%. 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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