ClinVar Miner

Submissions for variant NM_002016.1(FLG):c.5717C>A (p.Ser1906Ter) (rs141784184)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490339 SCV000267321 likely pathogenic Ichthyosis vulgaris 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV001567054 SCV001790673 likely benign not provided 2019-10-06 criteria provided, single submitter clinical testing
Reproductive Health Research and Development,BGI Genomics RCV000490339 SCV001142307 pathogenic Ichthyosis vulgaris 2020-01-06 no assertion criteria provided curation NM_002016.1:c.5717C>A in the FLG gene has an allele frequency of 0.013 in East Asia subpopulation in the gnomAD database.This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5717C>A (p.Ser1906*) variant has been detected in a patient affected with ichthyosis vulgaris (PMID: 28407221). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP criteria applied: PVS1; PM2_supporting; PP4.

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