ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)

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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 RCV003340945 SCV004047823 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O criteria provided, single submitter clinical testing The missense c.1742T>C (p.Met581Thr) variant in POMGNT1 gene 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 amino acid Met at position 581 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Met581Thr in POMGNT1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain significance.

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