ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1119G>C (p.Trp373Cys)

gnomAD frequency: 0.00001  dbSNP: rs1347504374
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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 RCV001338223 SCV001531875 uncertain significance Leukocyte adhesion deficiency 3 2020-05-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FERMT3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces tryptophan with cysteine at codon 373 of the FERMT3 protein (p.Trp373Cys). The tryptophan residue is moderately conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV004035858 SCV004867887 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.1119G>C (p.W373C) alteration is located in exon 10 (coding exon 9) of the FERMT3 gene. This alteration results from a G to C substitution at nucleotide position 1119, causing the tryptophan (W) at amino acid position 373 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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