ClinVar Miner

Submissions for variant NM_015122.3(FCHO1):c.2401G>A (p.Val801Ile)

gnomAD frequency: 0.00044  dbSNP: rs139967668
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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 RCV001999263 SCV002286012 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 801 of the FCHO1 protein (p.Val801Ile). This variant is present in population databases (rs139967668, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with FCHO1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1498544). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
3billion RCV004729025 SCV005328735 likely benign Immunodeficiency 76 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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