ClinVar Miner

Submissions for variant NM_021870.3(FGG):c.620A>G (p.Tyr207Cys)

gnomAD frequency: 0.00008  dbSNP: rs775086103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998311 SCV001154302 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001144042 SCV001304617 uncertain significance Congenital afibrinogenemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000998311 SCV004292760 uncertain significance not provided 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 207 of the FGG protein (p.Tyr207Cys). This variant is present in population databases (rs775086103, gnomAD 0.01%). This missense change has been observed in individual(s) with congenital dysfibrinogenemia (PMID: 25320241). ClinVar contains an entry for this variant (Variation ID: 809696). 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 expected to disrupt FGG protein function with a positive predictive value of 80%. 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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