ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.7487del (p.Thr2496fs)

gnomAD frequency: 0.00005  dbSNP: rs774362740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000400089 SCV000330118 pathogenic not provided 2022-08-02 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 156 amino acids are lost and replaced with 103 incorrect amino acids; This variant is associated with the following publications: (PMID: 26340974, 31589614, 35042220)
Revvity Omics, Revvity RCV001782770 SCV002017788 likely pathogenic Ichthyosis vulgaris 2023-12-22 criteria provided, single submitter clinical testing
3billion RCV001782770 SCV002058201 likely pathogenic Ichthyosis vulgaris 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_S).The variant has been reported to be associated with FLG related disorder (ClinVar ID: VCV000280218, PMID:26340974, 3billion dataset). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000032, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV001782770 SCV004049881 likely pathogenic Ichthyosis vulgaris 2023-04-11 criteria provided, single submitter clinical testing

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