ClinVar Miner

Submissions for variant NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) (rs758657421)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988259 SCV001137913 pathogenic Ichthyosis prematurity syndrome 2019-05-28 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000988259 SCV001443697 likely pathogenic Ichthyosis prematurity syndrome 2020-03-25 criteria provided, single submitter clinical testing This frameshifting variant in exon 13 of 13 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been reported or functionally characterized in the literature to our knowledge. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.001% (3/251470) and thus is presumed to be rare. Based on the available evidence, the c.1799_1800del (p.Glu600AlafsTer7) variant is classified as Likely Pathogenic.

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