ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.44T>G (p.Val15Gly)

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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 RCV004555821 SCV005044844 uncertain significance Bone marrow failure syndrome 4 criteria provided, single submitter clinical testing The missense c.44T>G p.Val15Gly variant in MYSM1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Val15Gly variant has allele frequenct 0.001% in gnomAD Exomes and is novel not in any individuals in 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Val15Gly in MYSM1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates.The amino acid Val at position 15 is changed to a Gly 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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