ClinVar Miner

Submissions for variant NM_021870.2(FGG):c.953G>T (p.Gly318Val)

dbSNP: rs121913089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017783 SCV000038062 other FIBRINOGEN BALTIMORE 1 2014-09-26 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003944828 SCV004760048 uncertain significance FGG-related disorder 2023-11-08 no assertion criteria provided clinical testing The FGG c.953G>T variant is predicted to result in the amino acid substitution p.Gly318Val. This variant has been reported in a study of Fibrinogen Baltimore I (Reported as p.Gly292Val, Bantia et al. 1990. PubMed ID: 2257302). A different missense variant (c.952G>A, p.Gly318Ser) in the same codon has been reported in the heterozygous state in individuals in a cohort study of patients with bleeding disorders (Downes et al. 2019. PubMed ID: 31064749. Suppl3_SNV+INDEL). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, 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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