ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.1610C>T (p.Ser537Phe)

gnomAD frequency: 0.00001  dbSNP: rs1248488995
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003445362 SCV004171950 uncertain significance Intellectual disability, autosomal dominant 13 criteria provided, single submitter clinical testing The missense c.1610C>T(p.Ser537Phe) variant in HIVEP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser537Phe variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes database. This variant has not been reported to the ClinVar database. The amino acid change p.Ser537Phe in HIVEP2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ser at position 537 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance.

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