ClinVar Miner

Submissions for variant NM_002016.1(FLG):c.2143C>T (p.Gln715Ter) (rs797045090)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000190587 SCV000986733 not provided Ichthyosis vulgaris no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 12/30/2014 by GTR ID 21766. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190587 SCV000245612 pathogenic Ichthyosis vulgaris 2014-12-30 criteria provided, single submitter clinical testing The Gln715X variant in FLG has not been previously reported in individuals with ichthyosis vulgaris and was not identified in large population studies. This nonsense variant leads to a premature termination codon at position 715, which is predicted to lead to a truncated or absent protein. Complete loss of FLG function is an established disease mechanism for ichthyosis vulgaris. Carriers of loss-of-function FLG variants have an increased risk for mild ichtiyosis vulgaris and atopic dermatitis (2-4 fold higher risk for atopic dermatitis; Smith 2006, Henderson 2008, Rodriguez 2008, Schuttelaar 2009, Ziyab 2012). In summary, this variant meets our criteria to be classified as pathogenic for ichthyosis vulgaris in an autosomal recessive manner (http://pcpgm.partners.org/LMM) and is a risk factor for mild ichthyosis vulgaris and atopic dermatitis in carriers.

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