ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.2030A>G (p.Gln677Arg)

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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 RCV004585153 SCV005073857 uncertain significance Bone marrow failure syndrome 4 criteria provided, single submitter clinical testing The observed missense variant c.2030A>G (p.Gln677Arg) in MYSM1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gln677Arg variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The amino acid change p.Gln677Arg in MYSM1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gln at position 677 is changed to a Arg 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 (VUS).

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