ClinVar Miner

Submissions for variant NM_005094.4(SLC27A4):c.1259G>A (p.Arg420His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004683639 SCV005164556 uncertain significance Inborn genetic diseases 2024-04-18 criteria provided, single submitter clinical testing The c.1259G>A (p.R420H) alteration is located in exon 9 (coding exon 8) of the SLC27A4 gene. This alteration results from a G to A substitution at nucleotide position 1259, causing the arginine (R) at amino acid position 420 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Neuberg Centre For Genomic Medicine, NCGM RCV005208225 SCV005849173 uncertain significance Ichthyosis prematurity syndrome criteria provided, single submitter clinical testing The missense c.1259G>A(p.Arg420His) variant in SLC27A4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg420His variant is present with allele frequency of 0.01% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidences (Polyphen - Probably damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The reference amino acid at this position on SLC27A4 gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 420 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS). No significant variant in SLC27A4 gene has been detected in the spouse.

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