ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn)

gnomAD frequency: 0.00013  dbSNP: rs201257852
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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 RCV001064612 SCV001229522 uncertain significance Leukocyte adhesion deficiency 3 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 610 of the FERMT3 protein (p.Asp610Asn). This variant is present in population databases (rs201257852, gnomAD 0.05%). 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: 858682). 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 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004792706 SCV005412353 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing BP4, PM1

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