ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.683+18G>A

gnomAD frequency: 0.00033  dbSNP: rs369707009
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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 RCV001467140 SCV001671159 likely benign Leukocyte adhesion deficiency 3 2023-12-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388018 SCV004100183 likely benign not specified 2023-09-26 criteria provided, single submitter clinical testing Variant summary: FERMT3 c.683+18G>A alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 5.6e-05 in 179042 control chromosomes. To our knowledge, no occurrence of c.683+18G>A in individuals affected with Leukocyte Adhesion Deficiency, Type III and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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