ClinVar Miner

Submissions for variant NM_001142556.2(HMMR):c.1360G>A (p.Glu454Lys)

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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 RCV003337946 SCV004048400 uncertain significance Familial cancer of breast criteria provided, single submitter clinical testing The above variant has not be reported previously in affected patients.This variant has not been reported to the ClinVar database.The amino acid Glu at position 454 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. . In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Glu454Lys in HMMR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The p.Glu454Lys variant is novel (not in any individuals) in 1000 Genomes. This variant is classified as uncertain significance as per ACMG guidelines.

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