ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys)

gnomAD frequency: 0.00129  dbSNP: rs140328152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767975 SCV000898710 uncertain significance Leukocyte adhesion deficiency 3 2021-03-30 criteria provided, single submitter clinical testing FERMT3 NM_178443 exon 3 p.Arg111Cys (c.331C>T): This variant has not been reported in the literature but is present in 0.3% (90/23962) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs140328152). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000767975 SCV001118338 likely benign Leukocyte adhesion deficiency 3 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536597 SCV003676400 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.331C>T (p.R111C) alteration is located in exon 3 (coding exon 2) of the FERMT3 gene. This alteration results from a C to T substitution at nucleotide position 331, causing the arginine (R) at amino acid position 111 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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