ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu)

gnomAD frequency: 0.00003  dbSNP: rs777178622
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000323465 SCV000341127 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001217090 SCV001388918 uncertain significance Leukocyte adhesion deficiency 3 2024-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 190 of the FERMT3 protein (p.Gln190Glu). This variant is present in population databases (rs777178622, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with FERMT3-related conditions. ClinVar contains an entry for this variant (Variation ID: 287373). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt FERMT3 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.
Baylor Genetics RCV001217090 SCV001520899 uncertain significance Leukocyte adhesion deficiency 3 2019-07-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV000323465 SCV005191327 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV001217090 SCV005684487 uncertain significance Leukocyte adhesion deficiency 3 2024-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949896 SCV004759775 uncertain significance FERMT3-related disorder 2024-02-16 no assertion criteria provided clinical testing The FERMT3 c.568C>G variant is predicted to result in the amino acid substitution p.Gln190Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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