ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser)

gnomAD frequency: 0.00002  dbSNP: rs142543888
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207660 SCV001379023 uncertain significance Leukocyte adhesion deficiency 3 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 501 of the FERMT3 protein (p.Gly501Ser). This variant is present in population databases (rs142543888, gnomAD 0.04%). 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: 938442). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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