ClinVar Miner

Submissions for variant NM_001142556.2(HMMR):c.319C>G (p.Gln107Glu)

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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 RCV004771702 SCV005382387 uncertain significance Familial cancer of breast 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.319C>G (p.Gln107Glu) variant in HMMR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gln107Glu variant is present with allele frequency of 0.002% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (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 change p.Gln107Glu in HMMR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gln at position 107 is changed to a Glu 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).

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