ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003154314 SCV003842184 uncertain significance Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 2023-03-04 criteria provided, single submitter clinical testing A homozygous missense variation in exon 2 of the POMGNT2 gene that results in the amino acid substitution of Tryptophan for Cysteine at codon 85 (p.Cys85Trp) was detected. The p.Cys85Trp variant has not been reported in the 1000 genomes and gnomAD databases. The in-silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species.

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