ClinVar Miner

Submissions for variant NM_001098426.2(SMARCD2):c.391C>T (p.Gln131Ter)

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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 RCV003337985 SCV004048468 likely pathogenic Specific granule deficiency 2 criteria provided, single submitter clinical testing The stop gained variant c.391C>T (p.Gln131Ter) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The nucleotide change in SMARCD2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Loss of function variants are known to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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