ClinVar Miner

Submissions for variant NM_017671.5(FERMT1):c.1792G>A (p.Gly598Arg)

gnomAD frequency: 0.00004  dbSNP: rs142825013
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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 RCV001877113 SCV002135784 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 598 of the FERMT1 protein (p.Gly598Arg). This variant is present in population databases (rs142825013, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with FERMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1370333). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FERMT1 protein function. 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.
3billion RCV004720328 SCV005328740 likely benign Kindler syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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