ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)

gnomAD frequency: 0.00014  dbSNP: rs147145234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210631 SCV000262958 pathogenic Inborn genetic diseases 2014-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000598981 SCV000710048 pathogenic not provided 2024-04-05 criteria provided, single submitter clinical testing Identified in published literature in the heterozygous state in an individual with ichthyosis who also harbored two variants in a different gene associated with autosomal recessive inheritance (PMID: 25356970); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 1982 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); This variant is associated with the following publications: (PMID: 34758253, 31365035, 31589614, 34510712, 25356970)
Genome-Nilou Lab RCV001542544 SCV004050228 pathogenic Ichthyosis vulgaris 2023-04-11 criteria provided, single submitter clinical testing
Genomics England Pilot Project, Genomics England RCV001542544 SCV001759981 likely pathogenic Ichthyosis vulgaris no assertion criteria provided clinical testing

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