ClinVar Miner

Submissions for variant NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)

gnomAD frequency: 0.00006  dbSNP: rs137853134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000006102 SCV001443767 pathogenic Ichthyosis prematurity syndrome 2020-03-25 criteria provided, single submitter clinical testing This variant has been previously reported as a compound heterozygous change in multiple individuals with Ichthyosis Prematurity Syndrome (IPS; PMIDs: 19631310, 27224495, 21450060). The p.Gln300Arg variant is a frequent ancestral pathogenic variant in the Scandinavian population (PMID: 27224495). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0005% (14/282772) and thus is presumed to be rare. In silico analyses support a deleterious effect of the c.899A>G (p.Gln300Arg) variant on protein function. Based on the available evidence, the c.899A>G (p.Gln300Arg) variant is classified as Pathogenic.
OMIM RCV000006102 SCV000026284 pathogenic Ichthyosis prematurity syndrome 2009-08-01 no assertion criteria provided literature only
PerkinElmer Genomics RCV000006102 SCV002020693 pathogenic Ichthyosis prematurity syndrome 2021-10-18 no assertion criteria provided clinical testing

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