ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.5014C>T (p.Gln1672Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center RCV003330304 SCV004037351 likely pathogenic Ichthyosis vulgaris 2019-12-09 criteria provided, single submitter clinical testing The c.5014C>T variant in the FLG gene is a nonsense variant which results in a premature termination codon at amino acid 1672/4062 (coding exon 3/3, NM_002016.1). This variant has not been observed in the Genome Aggregation Database (gnomAD), indicating it is not a common benign variant in the populations represented in this database. To the best of our knowledge, this specific variant has not been reported in the literature, ClinVar and HGMD databases. However, several truncating variants resulting in a premature termination codon closer to the C-terminus have been described as disease causing. Analysis of parental samples shows that this variant is present in his mother, and is therefore maternally inherited.

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