ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.320G>A (p.Arg107His)

gnomAD frequency: 0.00022  dbSNP: rs138704967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646737 SCV000768522 likely benign Leukocyte adhesion deficiency 3 2024-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530483 SCV003686542 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.320G>A (p.R107H) alteration is located in exon 3 (coding exon 2) of the FERMT3 gene. This alteration results from a G to A substitution at nucleotide position 320, causing the arginine (R) at amino acid position 107 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004705750 SCV005211072 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004755999 SCV005353288 uncertain significance FERMT3-related disorder 2024-07-15 no assertion criteria provided clinical testing The FERMT3 c.320G>A variant is predicted to result in the amino acid substitution p.Arg107His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, 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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